rs150129663 in ACO2 gene and Movement Disorders

PMID 25351951 2014 Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy.

PMID 26992325 2016 Functional cellular analyses reveal energy metabolism defect and mitochondrial DNA depletion in a case of mitochondrial aconitase deficiency.

PMID 28545339 2017 Increased Survival and Partly Preserved Cognition in a Patient With ACO2-Related Disease Secondary to a Novel Variant.

PMID 22405087 2012 Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2.

rs1555890974 in ACO2;POLR3H gene and Movement Disorders

PMID 22405087 2012 Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2.

PMID 26992325 2016 Functional cellular analyses reveal energy metabolism defect and mitochondrial DNA depletion in a case of mitochondrial aconitase deficiency.

PMID 28545339 2017 Increased Survival and Partly Preserved Cognition in a Patient With ACO2-Related Disease Secondary to a Novel Variant.

PMID 25351951 2014 Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy.

rs145588689 in ADAR gene and Movement Disorders

PMID 12916015 2003 Mutations of the RNA-specific adenosine deaminase gene (DSRAD) are involved in dyschromatosis symmetrica hereditaria.

PMID 26802932 2016 Dyschromatosis Symmetrica Hereditaria and Aicardi-Goutières Syndrome 6 Are Phenotypic Variants Caused by ADAR1 Mutations.

PMID 15146470 2004 Seven novel mutations of the ADAR gene in Chinese families and sporadic patients with dyschromatosis symmetrica hereditaria (DSH).

PMID 16536805 2006 Two novel mutations and evidence for haploinsufficiency of the ADAR gene in dyschromatosis symmetrica hereditaria.

PMID 24950769 2014 Five novel mutations in the ADAR1 gene associated with dyschromatosis symmetrica hereditaria.

PMID 24183309 2013 Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.

PMID 23621630 2013 The adenosine deaminase acting on RNA 1 p150 isoform is involved in the pathogenesis of dyschromatosis symmetrica hereditaria.

PMID 25604658 2015 Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

PMID 24262145 2014 A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1.

rs1553732126 in ADCY5 gene and Movement Disorders

PMID 10051231 1999 D1- and D2-like dopamine receptors are co-localized on the presynaptic varicosities of striatal and nucleus accumbens neurons in vitro.

PMID 12665504 2003 Motor dysfunction in type 5 adenylyl cyclase-null mice.

PMID 12503609 2003 Characterization of the human adenylyl cyclase gene family: cDNA, gene structure, and tissue distribution of the nine isoforms.

PMID 12223546 2002 Impaired D2 dopamine receptor function in mice lacking type 5 adenylyl cyclase.

PMID 24700542 2014 Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia.

PMID 1618857 1992 Isolation and characterization of a novel cardiac adenylylcyclase cDNA.

PMID 25379658 2014 4-Phenylbutyrate attenuates the ER stress response and cyclic AMP accumulation in DYT1 dystonia cell models.

PMID 22539851 2012 Gα(olf) mutation allows parsing the role of cAMP-dependent and extracellular signal-regulated kinase-dependent signaling in L-3,4-dihydroxyphenylalanine-induced dyskinesia.

PMID 22782511 2012 Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5.

PMID 23449625 2013 Role of Gα(olf) in familial and sporadic adult-onset primary dystonia.

PMID 25790160 2015 A genome sequencing program for novel undiagnosed diseases.

PMID 8511718 1993 Discrete expression of Ca2+/calmodulin-sensitive and Ca(2+)-insensitive adenylyl cyclases in the rat brain.

PMID 25193033 2014 Structure, mechanism, and regulation of soluble adenylyl cyclases - similarities and differences to transmembrane adenylyl cyclases.

PMID 26686870 2016 ADCY5 mutation carriers display pleiotropic paroxysmal day and nighttime dyskinesias.

PMID 8415621 1993 Localization of D1 and D2 dopamine receptors in brain with subtype-specific antibodies.

PMID 8429907 1993 Cloning and expression of an adenylyl cyclase localized to the corpus striatum.

PMID 27061943 2016 Phenotypic insights into ADCY5-associated disease.

PMID 28229249 2017 ADCY5-related dyskinesia presenting as familial myoclonus-dystonia.

PMID 28511835 2017 ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients.

PMID 27052971 2016 Treatment of ADCY5-Associated Dystonia, Chorea, and Hyperkinetic Disorders With Deep Brain Stimulation: A Multicenter Case Series.

PMID 26085604 2015 ADCY5 mutations are another cause of benign hereditary chorea.

PMID 26537056 2015 ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations.

rs142684762 in ADGRG1 gene and Movement Disorders

PMID 24531968 2014 Evolutionarily dynamic alternative splicing of GPR56 regulates regional cerebral cortical patterning.

PMID 21349848 2011 Disease-associated GPR56 mutations cause bilateral frontoparietal polymicrogyria via multiple mechanisms.

PMID 23981349 2014 Compound heterozygosity in GPR56 with bilateral frontoparietal polymicrogyria.

PMID 19016831 2009 Bilateral frontoparietal polymicrogyria, Lennox-Gastaut syndrome, and GPR56 gene mutations.

PMID 25642806 2015 Bilateral frontoparietal polymicrogyria: a novel GPR56 mutation and an unusual phenotype.

PMID 16240336 2005 Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes.

PMID 20929962 2010 GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex.

PMID 21708946 2011 The N terminus of the adhesion G protein-coupled receptor GPR56 controls receptor signaling activity.

PMID 25607655 2015 The adhesion G protein-coupled receptor GPR56 is a cell-autonomous regulator of oligodendrocyte development.

PMID 12730993 2003 Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16.

rs779340209 in ADNP gene and Movement Disorders

PMID 24531329 2014 A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP.

PMID 11013255 2001 Cloning and characterization of the human activity-dependent neuroprotective protein.

PMID 23160955 2012 Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.

PMID 25169753 2014 The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism.

PMID 22495309 2012 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

PMID 28221363 2017 Premature primary tooth eruption in cognitive/motor-delayed ADNP-mutated children.

PMID 25057125 2014 Expansion of the clinical phenotype associated with mutations in activity-dependent neuroprotective protein.

PMID 26637798 2015 Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms.

PMID 27031564 2016 Additional data on the clinical phenotype of Helsmoortel-Van der Aa syndrome associated with a novel truncating mutation in ADNP gene.

PMID 28191889 2017 Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.

PMID 26845707 2016 Comprehensive molecular testing in patients with high functioning autism spectrum disorder.

rs778127154 in ALDH5A1 gene and Movement Disorders

PMID 7726383 1994 4-Hydroxybutyric aciduria.

PMID 19172412 2009 Succinic semialdehyde dehydrogenase deficiency: lessons from mice and men.

PMID 12743223 2003 Clinical spectrum of succinic semialdehyde dehydrogenase deficiency.

PMID 16298354 2005 Inherited disorders of neurotransmitters in children and adults.

PMID 27268762 2016 Acute Infantile Encephalopathy as Presentation of Succinic Semialdehyde Dehydrogenase Deficiency.

PMID 26268900 2015 Natural history of succinic semialdehyde dehydrogenase deficiency through adulthood.

rs1554380093 in AP4M1 gene and Movement Disorders

PMID 25552650 2015 Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly.

PMID 24700674 2014 Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: expansion of the facial and neuroimaging features.

PMID 25496299 2014 A novel AP4M1 mutation in autosomal recessive cerebral palsy syndrome and clinical expansion of AP-4 deficiency.

PMID 21937992 2011 Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

PMID 20972249 2011 Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability.

PMID 19559397 2009 Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy.

PMID 23472171 2013 A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease.

PMID 24781758 2015 An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome.

PMID 23167973 2013 Adaptor protein complexes AP-4 and AP-5: new players in endosomal trafficking and progressive spastic paraplegia.

PMID 21620353 2011 Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature.

PMID 24395635 2014 Adaptor proteins involved in polarized sorting.

rs1554236054 in ARID1B gene and Movement Disorders

PMID 16691594 2006 Autosomal dominant syndrome resembling Coffin-Siris syndrome.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 23906836 2013 A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

PMID 22426308 2012 Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.

PMID 26376624 2015 De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature.

PMID 22405089 2012 Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability.

PMID 21801163 2012 Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B.

PMID 11170086 2001 Coffin-Siris syndrome: review and presentation of new cases from a questionnaire study.

PMID 22426309 2012 Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.

PMID 23929686 2013 Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.

PMID 27389779 2017 De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia.

PMID 20086098 2010 Mammalian SWI/SNF--a subunit BAF250/ARID1 is an E3 ubiquitin ligase that targets histone H2B.

PMID 6499251 1984 The Coffin-Siris syndrome: report of a family and further delineation.

PMID 24674232 2014 Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency.

PMID 24569609 2014 Coffin-Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene.

PMID 28867767 2017 Arid1b Haploinsufficiency Causes Abnormal Brain Gene Expression and Autism-Related Behaviors in Mice.

PMID 25674384 2015 ARID1B-mediated disorders: Mutations and possible mechanisms.

PMID 25169814 2014 The ARID1B phenotype: what we have learned so far.

PMID 26395437 2016 Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings.

PMID 25363768 2014 The contribution of de novo coding mutations to autism spectrum disorder.

rs1555912285 in ASXL1 gene and Movement Disorders

PMID 22436456 2012 Mutations in ASXL1 are associated with poor prognosis across the spectrum of malignant myeloid diseases.

PMID 15040442 2004 Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics.

PMID 25921057 2015 Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance.

PMID 21706002 2011 De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.

PMID 21368916 2011 Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis.

PMID 22419483 2012 Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations.

PMID 26364555 2015 Bohring-Opitz syndrome (BOS) with a new ASXL1 pathogenic variant: Review of the most prevalent molecular and phenotypic features of the syndrome.

rs119476050 in ATL1 gene and Movement Disorders

PMID 23483706 2013 Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegia.

PMID 17502470 2007 Hereditary spastic paraplegia 3A associated with axonal neuropathy.

PMID 20932283 2010 Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia.

rs1553245178 in ATP1A2 gene and Movement Disorders

PMID 20837964 2010 De novo mutations in ATP1A2 and CACNA1A are frequent in early-onset sporadic hemiplegic migraine.

PMID 15286158 2004 A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood.

PMID 16088919 2005 ATP1A2 mutations in 11 families with familial hemiplegic migraine.

PMID 23918834 2014 A novel ATP1A2 gene mutation in familial hemiplegic migraine and epilepsy.

PMID 16344534 2005 Familial basilar migraine associated with a new mutation in the ATP1A2 gene.

PMID 14667076 2003 Alternating hemiplegia of childhood: a syndrome inherited with an autosomal dominant trait.

PMID 15174025 2004 Alternating hemiplegia of childhood or familial hemiplegic migraine? A novel ATP1A2 mutation.

PMID 27864847 2017 Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.

PMID 25138102 2015 A missense variant of the ATP1A2 gene is associated with a novel phenotype of progressive sensorineural hearing loss associated with migraine.

PMID 1361034 1992 A syndrome of autosomal dominant alternating hemiplegia: clinical presentation mimicking intractable epilepsy; chromosomal studies; and physiologic investigations.

PMID 28811059 2017 An Infant With Epilepsy and Recurrent Hemiplegia due to Compound Heterozygous Variants in ATP1A2.

PMID 17473835 2007 First case of compound heterozygosity in Na,K-ATPase gene ATP1A2 in familial hemiplegic migraine.

rs1064797245 in ATP1A3 gene and Movement Disorders

PMID 28293679 2017 Research conference summary from the 2014 International Task Force on ATP1A3-Related Disorders.

PMID 11020638 2000 Alternating hemiplegia of childhood: clinical manifestations and long-term outcome.

PMID 26410222 2015 Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients.

PMID 25996915 2015 Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry.

PMID 25895915 2015 CAOS-Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss: A Third Allelic Disorder of the ATP1A3 Gene.

PMID 25656163 2015 Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly.

PMID 27091223 2016 The Genetic Homogeneity of CAPOS Syndrome: Four New Patients With the c.2452G>A (p.Glu818Lys) Mutation in the ATP1A3 Gene.

PMID 22924536 2012 ATP1A3 mutations in infants: a new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia.

PMID 16632466 2006 Mutations Phe785Leu and Thr618Met in Na+,K+-ATPase, associated with familial rapid-onset dystonia parkinsonism, interfere with Na+ interaction by distinct mechanisms.

PMID 26297560 2015 Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype.

PMID 22534615 2012 New triggers and non-motor findings in a family with rapid-onset dystonia-parkinsonism.

PMID 25359261 2015 Genome sequencing identifies a novel mutation in ATP1A3 in a family with dystonia in females only.

PMID 24468074 2014 A novel recurrent mutation in ATP1A3 causes CAPOS syndrome.

PMID 22850527 2012 Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study.

PMID 24436111 2014 Cognitive impairment in rapid-onset dystonia-parkinsonism.

PMID 24739246 2014 Distinct neurological disorders with ATP1A3 mutations.

PMID 22933743 2012 Psychiatric disorders in rapid-onset dystonia-parkinsonism.

PMID 23483595 2013 The multiple faces of the ATP1A3-related dystonic movement disorder.

PMID 24996492 2014 Clinical and genetic analysis in alternating hemiplegia of childhood: ten new patients from Southern Europe.

PMID 19652145 2009 Rapid-onset dystonia-parkinsonism in a child with a novel atp1a3 gene mutation.

PMID 15260953 2004 Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism.

PMID 22842232 2012 De novo mutations in ATP1A3 cause alternating hemiplegia of childhood.

PMID 24123283 2014 Intermediate form between alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism.

PMID 2842249 1988 Chromosomal localization of human Na+, K+-ATPase alpha- and beta-subunit genes.

PMID 29184165 2017 ATP1A3 mutations can cause progressive auditory neuropathy: a new gene of auditory synaptopathy.

PMID 8496742 1993 Alternating hemiplegia of childhood.

PMID 26400718 2015 Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation.

rs1156904586 in ATP8A2 gene and Movement Disorders

PMID 28454995 2017 A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield.

PMID 27679995 2016 New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy.

PMID 22912588 2012 Mutations in a P-type ATPase gene cause axonal degeneration.

PMID 25590979 2015 Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.

PMID 22892528 2013 Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion.

rs1557082399 in ATRX gene and Movement Disorders

PMID 28371197 2017 A novel mutation in ATRX associated with intellectual disability, syndromic features, and osteosarcoma.

PMID 24289169 2014 Mutations of codon 2085 in the helicase domain of ATRX are recurrent and cause ATRX syndrome.

PMID 11015451 2000 ATR-X mutations cause impaired nuclear location and altered DNA binding properties of the XNP/ATR-X protein.

PMID 18409179 2008 Mutations in the chromatin-associated protein ATRX.

PMID 24805811 2015 Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X).

PMID 10602370 1999 Germline and gonosomal mosaicism in the ATR-X syndrome.

PMID 16813605 2006 Mutations in PHD-like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome.

PMID 10417298 1999 Mutation of the XNP/ATR-X gene in a family with severe mental retardation, spastic paraplegia and skewed pattern of X inactivation: demonstration that the mutation is involved in the inactivation bias.

PMID 12673795 2003 Mutational analysis of the ATRX gene by DGGE: a powerful diagnostic approach for the ATRX syndrome.

PMID 21653732 2011 Role of ATRX in chromatin structure and function: implications for chromosome instability and human disease.

PMID 19005673 2009 ATRX marks the inactive X chromosome (Xi) in somatic cells and during imprinted X chromosome inactivation in trophoblast stem cells.

PMID 10398237 1999 Carpenter-Waziri syndrome results from a mutation in XNP.

PMID 12858175 2003 Identification of acquired somatic mutations in the gene encoding chromatin-remodeling factor ATRX in the alpha-thalassemia myelodysplasia syndrome (ATMDS).

PMID 11050622 2000 Holmes-Gang syndrome is allelic with XLMR-hypotonic face syndrome.

PMID 1415255 1992 X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis.

PMID 12116232 2002 Expanding phenotype of XNP mutations: mild to moderate mental retardation.

PMID 10570185 1999 Localization of a putative transcriptional regulator (ATRX) at pericentromeric heterochromatin and the short arms of acrocentric chromosomes.

PMID 16722615 2006 Alpha thalassaemia-mental retardation, X linked.

PMID 12032728 2002 Alpha-thalassemia/mental retardation syndrome, X-Linked (ATR-X, MIM #301040, ATR-X/XNP/XH2 gene MIM #300032).

PMID 16118346 2006 X linked mental retardation: a clinical guide.

PMID 28371217 2017 Inherited germline ATRX mutation in two brothers with ATR-X syndrome and osteosarcoma.

rs1553597538 in BCS1L gene and Movement Disorders

PMID 17314340 2007 Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome.

PMID 12215968 2002 GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L.

PMID 19508421 2009 Clinical and biochemical spectrum of mitochondrial complex III deficiency caused by mutations in the BCS1L gene.

PMID 17403714 2007 Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy.

PMID 11528392 2001 A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.

rs869025340 in BRAF gene and Movement Disorders

PMID 19206169 2009 Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.

PMID 18413255 2008 Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome.

PMID 5771505 1969 Multiple lentigenes syndrome.

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PMID 16523510 2006 LEOPARD syndrome: clinical diagnosis in the first year of life.

PMID 18039235 2007 Neurological complications of cardio-facio-cutaneous syndrome.

PMID 16825433 2006 The cardiofaciocutaneous syndrome.

rs80359541 in BRCA2 gene and Movement Disorders

PMID 15796958 2005 BRCA1 and pancreatic cancer: pedigree findings and their causal relationships.

PMID 15197194 2004 Contralateral breast cancer in BRCA1 and BRCA2 mutation carriers.

PMID 12677558 2003 Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies.

PMID 18042939 2007 Breast cancer risk among male BRCA1 and BRCA2 mutation carriers.

PMID 17416853 2007 Meta-analysis of BRCA1 and BRCA2 penetrance.

PMID 9497246 1998 Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium.

PMID 16141007 2005 Cancer risks in BRCA2 families: estimates for sites other than breast and ovary.

PMID 21952622 2011 BRCA2 is a moderate penetrance gene contributing to young-onset prostate cancer: implications for genetic testing in prostate cancer patients.

PMID 21568838 2011 Fanconi anemia: at the crossroads of DNA repair.

PMID 16825431 2007 Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2.

rs1131691712 in CACNA1A gene and Movement Disorders

PMID 15710862 2005 Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystonia.

PMID 15300451 2004 Hereditary paroxysmal ataxia with mental retardation: a clinicopathological study in relation to episodic ataxia type 2.

PMID 16595610 2006 C-termini of P/Q-type Ca2+ channel alpha1A subunits translocate to nuclei and promote polyglutamine-mediated toxicity.

PMID 11179022 2001 Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2.

PMID 18498393 2008 CACNA1A mutation linking hemiplegic migraine and alternating hemiplegia of childhood.

PMID 12707077 2003 Phenotypes of spinocerebellar ataxia type 6 and familial hemiplegic migraine caused by a unique CACNA1A missense mutation in patients from a large family.

PMID 11564488 2001 Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel.

PMID 16043807 2005 New calcium channel mutations predict aberrant RNA splicing in episodic ataxia.

PMID 1564484 1992 Familial paroxysmal ataxia: report of a family.

PMID 28742085 2017 Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.

PMID 3358708 1988 Magnetic resonance imaging in familial paroxysmal ataxia.

PMID 17495624 2007 Migraine: gene mutations and functional consequences.

PMID 20204399 2010 CaV2.1 channelopathies.

PMID 20682717 2010 A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation.

PMID 17575281 2007 Primary episodic ataxias: diagnosis, pathogenesis and treatment.

PMID 11723274 2001 Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission.

PMID 16325861 2006 Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene.

PMID 17142831 2007 The genetic spectrum of a population-based sample of familial hemiplegic migraine.

PMID 15483044 2004 Dysfunction of the brain calcium channel CaV2.1 in absence epilepsy and episodic ataxia.

PMID 26814174 2016 Eye movement disorders are an early manifestation of CACNA1A mutations in children.

PMID 14718690 2004 Clinical spectrum of episodic ataxia type 2.

PMID 23831250 2013 Possible effect of corticoids on hemiplegic attacks in severe hemiplegic migraine.

PMID 8988170 1997 Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel.

PMID 9302278 1997 Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p.

PMID 9005860 1997 Familial episodic ataxia: clinical heterogeneity in four families linked to chromosome 19p.

PMID 8898206 1996 Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4.

PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

PMID 23441182 2013 Identification of a novel nonsense mutation p.Tyr1957Ter of CACNA1A in a Chinese family with episodic ataxia 2.

PMID 23771276 2013 The International Classification of Headache Disorders, 3rd edition (beta version).

PMID 25735478 2015 CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms.

PMID 18541804 2008 Large CACNA1A deletion in a family with episodic ataxia type 2.

PMID 25758715 2015 Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study.

PMID 21183743 2011 Recurrent stroke due to a novel voltage sensor mutation in Cav2.1 responds to verapamil.

PMID 20233618 2010 A pure cerebellar syndrome with corresponding ponto-cerebellar atrophy in acquired hepatocerebral degeneration.

PMID 22249839 2012 Neuronal P/Q-type calcium channel dysfunction in inherited disorders of the CNS.

PMID 27476654 2016 De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.

PMID 20129625 2010 Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2.

PMID 20097664 2010 Congenital ataxia, mental retardation, and dyskinesia associated with a novel CACNA1A mutation.

PMID 9559993 1998 SCA6 mutation analysis in a large cohort of the Japanese patients with late-onset pure cerebellar ataxia.

PMID 20156848 2010 Genetic and functional characterisation of the P/Q calcium channel in episodic ataxia with epilepsy.

PMID 19811514 2010 Sporadic hemiplegic migraine and delayed cerebral oedema after minor head trauma: a novel de novo CACNA1A gene mutation.

PMID 18940563 2008 Stepwise developmental regression associated with novel CACNA1A mutation.

PMID 19484318 2009 The ataxic Cacna1a-mutant mouse rolling nagoya: an overview of neuromorphological and electrophysiological findings.

PMID 9403487 1997 Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset.

PMID 9436730 1998 Spinocerebellar ataxia type 6: genotype and phenotype in German kindreds.

PMID 9879686 1998 Molecular analysis of a de novo mutation for spinocerebellar ataxia type 6 and (CAG)n repeat units in normal elder controls.

rs1553676901 in CACNA1D gene and Movement Disorders

PMID 25620733 2015 CACNA1D de novo mutations in autism spectrum disorders activate Cav1.3 L-type calcium channels.

PMID 28472507 2017 A Case Report of Hypoglycemia and Hypogammaglobulinemia: DAVID Syndrome in a Patient With a Novel NFKB2 Mutation.

PMID 21131953 2011 Loss of Ca(v)1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness.

PMID 25363760 2014 Synaptic, transcriptional and chromatin genes disrupted in autism.

PMID 12700358 2003 Functional role of L-type Cav1.3 Ca2+ channels in cardiac pacemaker activity.

PMID 22495309 2012 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

PMID 23913001 2013 Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism.

PMID 23913004 2013 Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension.

PMID 10929716 2000 Congenital deafness and sinoatrial node dysfunction in mice lacking class D L-type Ca2+ channels.

rs1554121872 in CAMK2A gene and Movement Disorders

PMID 29100089 2017 De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

rs1554389088 in CAMK2B gene and Movement Disorders

PMID 29100089 2017 De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

rs1555977248 in CASK gene and Movement Disorders

PMID 25886057 2015 Phenotypic and molecular insights into CASK-related disorders in males.

PMID 23662938 2013 Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy.

PMID 21498811 2011 MAGUKs, synaptic development, and synaptic plasticity.

PMID 24781210 2014 The genetic landscape of infantile spasms.

PMID 19377476 2009 A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.

PMID 22452838 2012 Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient.

PMID 21954287 2011 Phenotypic spectrum associated with CASK loss-of-function mutations.

PMID 20029458 2010 CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes.

PMID 23623288 2014 A de novo CASK mutation in pontocerebellar hypoplasia type 3 with early myoclonic epilepsy and tetralogy of Fallot.

PMID 22709267 2012 CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia.

PMID 19165920 2008 Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.

PMID 22495306 2012 De novo mutations revealed by whole-exome sequencing are strongly associated with autism.

PMID 24768552 2014 Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.

rs397517076 in CBL gene and Movement Disorders

PMID 28589114 2017 Unexpected Findings in a Child with Atypical Hemolytic Uremic Syndrome: An Example of How Genomics Is Changing the Clinical Diagnostic Paradigm.

PMID 26152360 2015 Deleterious c-Cbl Exon Skipping Contributes to Human Glioma.

PMID 25952305 2015 Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations.

PMID 20619386 2010 Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.

PMID 20543203 2010 Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia.

PMID 22266821 2012 Structural basis for autoinhibition and phosphorylation-dependent activation of c-Cbl.

PMID 20694012 2010 Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia.

rs1554314738 in CCN6 gene and Movement Disorders

PMID 22791401 2012 The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals.

PMID 29092958 2018 WISP3 mutation associated with pseudorheumatoid dysplasia.

PMID 23270760 2013 A descriptive analysis of 14 cases of progressive-psuedorheumatoid-arthropathy of childhood from south India: review of literature in comparison with juvenile idiopathic arthritis.

PMID 22987568 2012 Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia.

PMID 25988854 2015 Novel and recurrent mutations in WISP3 and an atypical phenotype.

rs587777618 in CCND2 gene and Movement Disorders

PMID 22228622 2012 Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.

PMID 22500628 2012 Somatic activation of AKT3 causes hemispheric developmental brain malformations.

PMID 22729224 2012 De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.

PMID 24705253 2014 De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.

PMID 22729222 2012 Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA.

PMID 16766701 2006 The role of intermediate progenitor cells in the evolutionary expansion of the cerebral cortex.

PMID 19641124 2009 Cyclin D2 is critical for intermediate progenitor cell proliferation in the embryonic cortex.

PMID 17486076 2007 Glycogen synthase kinase-3beta and p38 phosphorylate cyclin D2 on Thr280 to trigger its ubiquitin/proteasome-dependent degradation in hematopoietic cells.

PMID 23624932 2013 Regulation of cerebral cortex size and folding by expansion of basal progenitors.

PMID 26520804 2015 Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study.

PMID 28941273 2018 Hypoglycaemia represents a clinically significant manifestation of PIK3CA- and CCND2-associated segmental overgrowth.

PMID 22729223 2012 De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly.

PMID 15627943 2004 Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures.

rs104894094 in CDKN2A gene and Movement Disorders

PMID 16234564 2005 Lifetime risk of melanoma in CDKN2A mutation carriers in a population-based sample.

PMID 21325014 2011 Melanoma risk for CDKN2A mutation carriers who are relatives of population-based case carriers in Australia and the UK.

PMID 18981015 2008 Increased risk of cancer other than melanoma in CDKN2A founder mutation (p16-Leiden)-positive melanoma families.

PMID 21150883 2011 Prevalence of CDKN2A mutations in pancreatic cancer patients: implications for genetic counseling.

PMID 12072543 2002 Geographical variation in the penetrance of CDKN2A mutations for melanoma.

PMID 20132244 2010 Novel and recurrent p14 mutations in Italian familial melanoma.

PMID 15937071 2006 Comprehensive analysis of CDKN2A (p16INK4A/p14ARF) and CDKN2B genes in 53 melanoma index cases considered to be at heightened risk of melanoma.

PMID 10956390 2000 Risk of developing pancreatic cancer in families with familial atypical multiple mole melanoma associated with a specific 19 deletion of p16 (p16-Leiden).

rs1554599036 in CHD7 gene and Movement Disorders

PMID 23883829 2013 CHD7 gene polymorphisms and familial idiopathic scoliosis.

PMID 16400610 2006 Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.

PMID 23849776 2013 Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.

PMID 17661815 2007 Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability.

PMID 21378379 2011 CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype.

PMID 15300250 2004 Mutations in a new member of the chromodomain gene family cause CHARGE syndrome.

PMID 17299439 2007 CHARGE syndrome: an update.

PMID 20130577 2010 CHD7 cooperates with PBAF to control multipotent neural crest formation.

PMID 16155193 2006 CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene.

PMID 10590394 1999 CHARGE Association in newborns: a registry-based study.

PMID 22495309 2012 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

PMID 25472840 2014 Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency.

PMID 22461308 2012 Mutation update on the CHD7 gene involved in CHARGE syndrome.

PMID 26590800 2016 Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria.

PMID 22539353 2012 A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome.

PMID 20186815 2010 Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome.

PMID 21532573 2011 Sox2 cooperates with Chd7 to regulate genes that are mutated in human syndromes.

PMID 15666308 2005 Updated diagnostic criteria for CHARGE syndrome: a proposal.

PMID 18834967 2008 Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.

PMID 14626219 2003 Quantitative analysis of limb anomalies in CHARGE syndrome: correlation with diagnosis and characteristic CHARGE anomalies.

rs386834124 in CLN8 gene and Movement Disorders

PMID 25891276 2015 Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations.

PMID 27844444 2017 Exome sequencing identifies a novel homozygous CLN8 mutation in a Turkish family with Northern epilepsy.

PMID 26657971 2015 Resequencing and Association Analysis of CLN8 with Autism Spectrum Disorder in a Japanese Population.

rs1555605688 in CLTC gene and Movement Disorders

PMID 15217342 2004 The synaptic vesicle cycle.

PMID 24253303 2014 Activities at the Universal Protein Resource (UniProt).

PMID 1063406 1976 Clathrin: a unique protein associated with intracellular transfer of membrane by coated vesicles.

PMID 23911319 2013 Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network.

PMID 19348700 2009 The Human Gene Mutation Database: 2008 update.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

PMID 15858577 2005 Clathrin is required for the function of the mitotic spindle.

PMID 24234437 2014 ClinVar: public archive of relationships among sequence variation and human phenotype.

PMID 8375651 1993 The Drosophila clathrin heavy chain gene: clathrin function is essential in a multicellular organism.

PMID 11955450 2002 Endophilin mutations block clathrin-mediated endocytosis but not neurotransmitter release.

PMID 24870542 2014 A draft map of the human proteome.

PMID 22831640 2012 Diversity of clathrin function: new tricks for an old protein.

PMID 9147638 1997 Disruption of the clathrin heavy chain-like gene (CLTCL) associated with features of DGS/VCFS: a balanced (21;22)(p12;q11) translocation.

PMID 29100083 2017 High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

PMID 16618797 2006 Requirement of clathrin heavy chain for p53-mediated transcription.

PMID 22511880 2012 Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism.

PMID 26822784 2016 CLTC as a clinically novel gene associated with multiple malformations and developmental delay.

PMID 15284851 2004 Nonsense-mediated decay approaches the clinic.

PMID 16982422 2006 Clathrin-mediated endocytosis is the dominant mechanism of vesicle retrieval at hippocampal synapses.

PMID 20206336 2010 Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities.

PMID 18762582 2008 Inactivation of clathrin heavy chain inhibits synaptic recycling but allows bulk membrane uptake.

PMID 19854944 2010 The NCBI BioSystems database.

PMID 9671304 1998 Visualizing secretion and synaptic transmission with pH-sensitive green fluorescent proteins.

rs1064795935 in COL4A1 gene and Movement Disorders

PMID 19840616 2009 COL4A1 mutation in preterm intraventricular hemorrhage.

PMID 21625620 2011 COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans.

PMID 12525718 2003 Hereditary infantile hemiparesis, retinal arteriolar tortuosity, and leukoencephalopathy.

PMID 16598045 2006 Role of COL4A1 in small-vessel disease and hemorrhagic stroke.

PMID 19194877 2009 COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage.

PMID 26220970 2015 High-throughput genetic characterization of a cohort of Brugada syndrome patients.

PMID 22574627 2012 Childhood presentation of COL4A1 mutations.

PMID 16107487 2006 Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly.

PMID 16374828 2006 Neonatal porencephaly and adult stroke related to mutations in collagen IV A1.

PMID 17938367 2007 Clinical and brain MRI follow-up study of a family with COL4A1 mutation.

PMID 15882279 2005 Autosomal-dominant familial hematuria with retinal arteriolar tortuosity and contractures: a novel syndrome.

PMID 17696175 2007 COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke.

PMID 6428250 1984 Familial porencephalic white matter disease in two generations.

PMID 18160688 2007 COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps.

PMID 23394911 2013 Variants of anterior segment dysgenesis and cerebral involvement in a large family with a novel COL4A1 mutation.

PMID 15905400 2005 Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly.

PMID 23065703 2013 Novel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiency.

PMID 19949034 2009 Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome.

rs750451693 in CP gene and Movement Disorders

PMID 14719552 2003 Aceruloplasminemia, an iron metabolic disorder.

PMID 18200628 2008 Aceruloplasminemia: a novel mutation in a family with marked phenotypic variability.

PMID 25089372 2015 Aceruloplasminaemia: a family with a novel mutation and long-term therapy with deferasirox.

PMID 16629161 2006 Molecular and pathological basis of aceruloplasminemia.

rs917027829 in CSF1R gene and Movement Disorders

PMID 23816250 2013 A novel A781V mutation in the CSF1R gene causes hereditary diffuse leucoencephalopathy with axonal spheroids.

PMID 23649896 2013 Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene.

PMID 24336230 2014 Haploinsufficiency of CSF-1R and clinicopathologic characterization in patients with HDLS.

PMID 8981357 1997 Biology and action of colony--stimulating factor-1.

PMID 6595937 1984 Hereditary diffuse leucoencephalopathy with spheroids.

PMID 24145216 2013 CSF1R mutations in hereditary diffuse leukoencephalopathy with spheroids are loss of function.

PMID 23408870 2013 CSF1R mutations link POLD and HDLS as a single disease entity.

PMID 19487654 2009 Leukoencephalopathy with spheroids (HDLS) and pigmentary leukodystrophy (POLD): a single entity?

PMID 23411710 2013 Early involvement of the corpus callosum in a patient with hereditary diffuse leukoencephalopathy with spheroids carrying the de novo K793T mutation of CSF1R.

PMID 18794495 2008 Insights into the dynamics of hereditary diffuse leukoencephalopathy with axonal spheroids.

PMID 22843259 2012 MRI characteristics and scoring in HDLS due to CSF1R gene mutations.

PMID 22197934 2011 Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids.

PMID 22098561 2012 Update of the original HDLS kindred: divergent clinical courses.

rs545986367 in CSTB gene and Movement Disorders

PMID 23205931 2012 Electroclinical presentation and genotype-phenotype relationships in patients with Unverricht-Lundborg disease carrying compound heterozygous CSTB point and indel mutations.

PMID 22154554 2012 Unverricht-Lundborg disease: homozygosity for a new splicing mutation in the cystatin B gene.

PMID 21757863 2011 Severer phenotype in Unverricht-Lundborg disease (EPM1) patients compound heterozygous for the dodecamer repeat expansion and the c.202C>T mutation in the CSTB gene.

PMID 28378817 2017 Severe neurodegeneration, progressive cerebral volume loss and diffuse hypomyelination associated with a homozygous frameshift mutation in CSTB.

PMID 26843564 2016 CSTB null mutation associated with microcephaly, early developmental delay, and severe dyskinesia.

PMID 18325013 2008 Clinical picture of EPM1-Unverricht-Lundborg disease.

PMID 12058102 2002 Brainstem involvement in Unverricht-Lundborg disease (EPM1): An MRI and (1)H MRS study.

PMID 17158032 2007 Long-term evolution of EEG in Unverricht-Lundborg disease.

rs869320802 in CTBP1;CTBP1-AS gene and Movement Disorders

PMID 7479821 1995 Molecular cloning and characterization of a cellular phosphoprotein that interacts with a conserved C-terminal domain of adenovirus E1A involved in negative modulation of oncogenic transformation.

PMID 27094857 2016 A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects.

PMID 28955726 2017 De novo CTBP1 variant is associated with decreased mitochondrial respiratory chain activities.

rs1555535739 in CTCF gene and Movement Disorders

PMID 22354838 2012 CTCF: insights into insulator function during development.

PMID 23746550 2013 De novo mutations in the genome organizer CTCF cause intellectual disability.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

PMID 19563753 2009 CTCF: master weaver of the genome.

PMID 18654629 2008 The insulator binding protein CTCF positions 20 nucleosomes around its binding sites across the human genome.

PMID 28619046 2017 Identification of a novel CTCF mutation responsible for syndromic intellectual disability - a case report.

rs1064796453 in CTNNB1 gene and Movement Disorders

PMID 24431282 2014 Chondrocyte β-catenin signaling regulates postnatal bone remodeling through modulation of osteoclast formation in a murine model.

PMID 24614104 2014 Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features.

PMID 22110128 2012 Specific armadillo repeat sequences facilitate β-catenin nuclear transport in live cells via direct binding to nucleoporins Nup62, Nup153, and RanBP2/Nup358.

PMID 23499309 2013 Mutations in WNT1 cause different forms of bone fragility.

PMID 22682243 2012 Wnt/β-catenin signaling and disease.

PMID 27915094 2017 Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals.

PMID 15713948 2005 Wnt/beta-catenin pathway.

PMID 23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.

PMID 24668549 2014 A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency.

PMID 15866163 2005 Canonical Wnt/beta-catenin signaling prevents osteoblasts from differentiating into chondrocytes.

PMID 22495309 2012 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

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PMID 18334222 2008 Crystal structure of a full-length beta-catenin.

PMID 9060476 1997 Establishment of the dorso-ventral axis in Xenopus embryos is presaged by early asymmetries in beta-catenin that are modulated by the Wnt signaling pathway.

PMID 28575650 2017 Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR.

PMID 8227220 1993 The product of the Drosophila segment polarity gene armadillo is part of a multi-protein complex resembling the vertebrate adherens junction.

PMID 11719191 2001 LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development.

PMID 15866164 2005 Wnt/beta-catenin signaling in mesenchymal progenitors controls osteoblast and chondrocyte differentiation during vertebrate skeletogenesis.

PMID 25326669 2015 De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum.

PMID 21903672 2011 Maintaining embryonic stem cell pluripotency with Wnt signaling.

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

PMID 8582267 1995 Lack of beta-catenin affects mouse development at gastrulation.

rs1554008611 in CTNND2 gene and Movement Disorders

PMID 25839933 2015 CTNND2 deletion and intellectual disability.

PMID 25807484 2015 Loss of δ-catenin function in severe autism.

PMID 26601658 2016 Multigenerational autosomal dominant inheritance of 5p chromosomal deletions.

PMID 25473103 2015 CTNND2-a candidate gene for reading problems and mild intellectual disability.

PMID 29127138 2017 δ-Catenin (CTNND2) missense mutation in familial cortical myoclonic tremor and epilepsy.

PMID 25106414 2014 The clinical significance of small copy number variants in neurodevelopmental disorders.

PMID 15733271 2005 A variant Cri du Chat phenotype and autism spectrum disorder in a subject with de novo cryptic microdeletions involving 5p15.2 and 3p24.3-25 detected using whole genomic array CGH.

PMID 12835311 2003 Dual regulation of neuronal morphogenesis by a delta-catenin-cortactin complex and Rho.

rs1556213001 in CUL4B gene and Movement Disorders

PMID 28817236 2017 A new CUL4B variant associated with a mild phenotype and an exceptional pattern of leukoencephalopathy.

PMID 24898194 2014 Donor splice-site mutation in CUL4B is likely cause of X-linked intellectual disability.

PMID 10978355 2000 A new X linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24-q25.

PMID 25385192 2015 Variants in CUL4B are associated with cerebral malformations.

PMID 21816345 2011 X-linked mental retardation gene CUL4B targets ubiquitylation of H3K4 methyltransferase component WDR5 and regulates neuronal gene expression.

PMID 17236139 2007 Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor.

PMID 20002452 2010 A novel nonsense mutation in CUL4B gene in three brothers with X-linked mental retardation syndrome.

PMID 20655035 2010 Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability.

PMID 19818632 2009 CRL4s: the CUL4-RING E3 ubiquitin ligases.

PMID 17273978 2007 Mutation in CUL4B, which encodes a member of cullin-RING ubiquitin ligase complex, causes X-linked mental retardation.

rs6471 in CYP21A2 gene and Movement Disorders

PMID 9521938 1998 Results of screening 1.9 million Texas newborns for 21-hydroxylase-deficient congenital adrenal hyperplasia.

PMID 24904866 2013 Genotype-phenotype correlation in 27 pediatric patients in congenital adrenal hyperplasia due to 21-hydroxylase deficiency in a single center.

PMID 25041270 2015 The spectrum of clinical, hormonal and molecular findings in 280 individuals with nonclassical congenital adrenal hyperplasia caused by mutations of the CYP21A2 gene.

PMID 10857554 2000 Congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

PMID 23359698 2013 Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency.

PMID 15964450 2005 Congenital adrenal hyperplasia.

PMID 12930931 2003 Congenital adrenal hyperplasia.

PMID 23692712 2013 Association between genotype, clinical presentation, and severity of congenital adrenal hyperplasia: a review.

PMID 24778650 2014 Prevalence of nonclassic congenital adrenal hyperplasia in Turkish children presenting with premature pubarche, hirsutism, or oligomenorrhoea.

rs1057519430 in DDX3X gene and Movement Disorders

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 22722829 2012 Novel mutations target distinct subgroups of medulloblastoma.

PMID 25050112 2014 DDX3X regulates cell survival and cell cycle during mouse early embryonic development.

PMID 17979704 2007 The DDX3 subfamily of the DEAD box helicases: divergent roles as unveiled by studying different organisms and in vitro assays.

PMID 16518819 2006 Divergent roles of the DEAD-box protein BS-PL10, the urochordate homologue of human DDX3 and DDX3Y proteins, in colony astogeny and ontogeny.

PMID 15772666 2005 X-inactivation profile reveals extensive variability in X-linked gene expression in females.

PMID 18463129 2008 Dosage compensation of the mammalian X chromosome influences the phenotypic variability of X-linked dominant male-lethal disorders.

PMID 25724843 2015 Cancer-associated mutants of RNA helicase DDX3X are defective in RNA-stimulated ATP hydrolysis.

PMID 26235985 2015 Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

PMID 15572142 2005 Belle is a Drosophila DEAD-box protein required for viability and in the germ line.

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

PMID 9381176 1997 Functional coherence of the human Y chromosome.

PMID 25326669 2015 De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum.

PMID 23413191 2013 RNA helicase DDX3 is a regulatory subunit of casein kinase 1 in Wnt-β-catenin signaling.

PMID 2563148 1989 Birth of the D-E-A-D box.

PMID 28371085 2017 DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome.

rs138659167 in DHCR7 gene and Movement Disorders

PMID 21777499 2011 Smith-Lemli-Opitz syndrome.

PMID 9024557 1997 Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism.

PMID 23918729 2013 Brain magnetic resonance imaging findings in Smith-Lemli-Opitz syndrome.

PMID 23042628 2012 Mutational spectrum of Smith-Lemli-Opitz syndrome.

PMID 18285838 2008 Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management.

PMID 15286151 2004 Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome.

PMID 8259166 1994 Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome.

PMID 11562938 2001 Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G-->C genotype.

PMID 10677299 2000 Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome.

PMID 22438180 2012 Smith-Lemli-Opitz syndrome: Objective assessment of facial phenotype.

PMID 16761297 2006 The near universal presence of autism spectrum disorders in children with Smith-Lemli-Opitz syndrome.

PMID 15464432 2005 Lowered DHCR7 activity measured by ergosterol conversion in multiple cell types in Smith-Lemli-Opitz syndrome.

PMID 23293579 2012 Mutational spectrum of smith-lemli-opitz syndrome patients in hungary.

PMID 16906538 2006 DHCR7 mutation carrier rates and prevalence of the RSH/Smith-Lemli-Opitz syndrome: where are the patients?

PMID 11241839 2001 Mutations in the human DHCR7 gene.

PMID 10807690 2000 The Smith-Lemli-Opitz syndrome.

rs1213060424 in DLG3 gene and Movement Disorders

PMID 28777483 2017 Skewed X-inactivation in a family with DLG3-associated X-linked intellectual disability.

PMID 15185169 2004 Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation.

PMID 24721225 2014 X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes.

PMID 19795139 2010 A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation.

PMID 22659343 2012 Sporadic male patients with intellectual disability: contribution of X-chromosome copy number variants.

PMID 25649377 2015 Next-generation sequencing in X-linked intellectual disability.

rs781139634 in DNMT3A gene and Movement Disorders

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PMID 16501171 2006 Roles for Dnmt3b in mammalian development: a mouse model for the ICF syndrome.

PMID 19344873 2009 DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.

PMID 17445268 2007 Coordinate regulation of DNA methyltransferase expression during oogenesis.

PMID 16725135 2006 Dynamic expression of DNMT3a and DNMT3b isoforms during male germ cell development in the mouse.

PMID 20729844 2010 Dnmt3a regulates emotional behavior and spine plasticity in the nucleus accumbens.

PMID 28386848 2018 Identification of De Novo DNMT3A Mutations That Cause West Syndrome by Using Whole-Exome Sequencing.

PMID 10647011 1999 Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene.

PMID 10433969 1999 Cloning, expression and chromosome locations of the human DNMT3 gene family.

PMID 27991732 2017 Acute myeloid leukemia-associated DNMT3A p.Arg882His mutation in a patient with Tatton-Brown-Rahman overgrowth syndrome as a constitutional mutation.

PMID 26866722 2016 Tatton-Brown-Rahman syndrome due to 2p23 microdeletion.

PMID 10325416 1999 The human DNA methyltransferases (DNMTs) 1, 3a and 3b: coordinate mRNA expression in normal tissues and overexpression in tumors.

PMID 28941052 2017 The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies.

PMID 15672446 2005 Dynamic expression of de novo DNA methyltransferases Dnmt3a and Dnmt3b in the central nervous system.

PMID 2717398 1989 Predictive motifs derived from cytosine methyltransferases.

PMID 10555141 1999 DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development.

PMID 28667884 2017 Exome sequencing reveals DNMT3A and ASXL1 variants associate with progression of chronic myeloid leukemia after tyrosine kinase inhibitor therapy.

PMID 15739230 2005 DNA methyltransferase expression in the mouse germ line during periods of de novo methylation.

PMID 16357870 2006 The Polycomb group protein EZH2 directly controls DNA methylation.

PMID 15063176 2004 Windows for sex-specific methylation marked by DNA methyltransferase expression profiles in mouse germ cells.

PMID 24614070 2014 Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.

PMID 17878930 2007 DNA methylation in the human cerebral cortex is dynamically regulated throughout the life span and involves differentiated neurons.

PMID 27701732 2017 Novel DNMT3A germline mutations are associated with inherited Tatton-Brown-Rahman syndrome.

PMID 22495306 2012 De novo mutations revealed by whole-exome sequencing are strongly associated with autism.

PMID 28475857 2017 Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.

PMID 23849776 2013 Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.

PMID 1423634 1992 A targeting sequence directs DNA methyltransferase to sites of DNA replication in mammalian nuclei.

PMID 11399089 2001 Enzymatic properties of recombinant Dnmt3a DNA methyltransferase from mouse: the enzyme modifies DNA in a non-processive manner and also methylates non-CpG [correction of non-CpA] sites.

PMID 12575993 2003 The Tudor domain 'Royal Family': Tudor, plant Agenet, Chromo, PWWP and MBT domains.

PMID 20228804 2010 Dnmt1 and Dnmt3a maintain DNA methylation and regulate synaptic function in adult forebrain neurons.

PMID 12138111 2002 A novel Dnmt3a isoform produced from an alternative promoter localizes to euchromatin and its expression correlates with active de novo methylation.

PMID 21844811 2011 An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

PMID 21067377 2010 DNMT3A mutations in acute myeloid leukemia.

PMID 21507354 2011 The DNMT3 family of mammalian de novo DNA methyltransferases.

PMID 12359337 2002 The human DNA methyltransferases DNMT3A and DNMT3B have two types of promoters with different CpG contents.

rs1553749681 in DOCK3 gene and Movement Disorders

PMID 20368433 2010 Dock3 induces axonal outgrowth by stimulating membrane recruitment of the WAVE complex.

PMID 29130632 2018 DOCK3-related neurodevelopmental syndrome: Biallelic intragenic deletion of DOCK3 in a boy with developmental delay and hypotonia.

PMID 17911219 2008 BDNF and memory formation and storage.

PMID 25016980 2014 Dock GEFs and their therapeutic potential: neuroprotection and axon regeneration.

PMID 25599672 2015 Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia.

PMID 17055478 2006 Neurotrophin receptor homolog (NRH1) proteins regulate mesoderm formation and apoptosis during early Xenopus development.

PMID 14682358 2003 Signalling mechanisms mediating neuronal responses to guidance cues.

PMID 28195318 2017 Biallelic loss-of-function variants in DOCK3 cause muscle hypotonia, ataxia, and intellectual disability.

PMID 25348405 2015 UniProt: a hub for protein information.

PMID 24870542 2014 A draft map of the human proteome.

PMID 19129390 2009 Loss of modifier of cell adhesion reveals a pathway leading to axonal degeneration.

PMID 24896178 2014 Genome sequencing identifies major causes of severe intellectual disability.

PMID 28139846 2017 Genotype and phenotype in 12 additional individuals with SATB2-associated syndrome.

PMID 15829629 2005 TrkB has a cell-autonomous role in the establishment of hippocampal Schaffer collateral synapses.

PMID 17046689 2006 Brain-specific phosphorylation of MeCP2 regulates activity-dependent Bdnf transcription, dendritic growth, and spine maturation.

PMID 15494731 2004 A de novo mutation affecting human TrkB associated with severe obesity and developmental delay.

PMID 15284851 2004 Nonsense-mediated decay approaches the clinic.

PMID 15234347 2004 Regulation of dendritic spine motility and stability by Rac1 and Rho kinase: evidence for two forms of spine motility.

PMID 10884317 2000 Small GTPases Rac and Rho in the maintenance of dendritic spines and branches in hippocampal pyramidal neurons.

PMID 12432077 2002 Identification of an evolutionarily conserved superfamily of DOCK180-related proteins with guanine nucleotide exchange activity.

PMID 14569117 2003 Disruption of a novel member of a sodium/hydrogen exchanger family and DOCK3 is associated with an attention deficit hyperactivity disorder-like phenotype.

PMID 10854253 2000 Isolation and characterization of novel presenilin binding protein.

PMID 12566533 2003 A novel pericentric inversion of chromosome 3 cosegregates with a developmental-behavioural phenotype.

rs1057519389 in EBF3 gene and Movement Disorders

PMID 28487885 2017 Novel de novo variant in EBF3 is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessment, and review of published cases.

PMID 19627984 2009 Arx acts as a regional key selector gene in the ventral telencephalon mainly through its transcriptional repression activity.

PMID 28017373 2017 Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism.

PMID 28017370 2017 De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome.

PMID 20300201 2010 Mutations in ARX Result in Several Defects Involving GABAergic Neurons.

PMID 28017372 2017 A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.

PMID 29162653 2017 De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism.

PMID 29062322 2017 Whole Gene Deletion of EBF3 Supporting Haploinsufficiency of This Gene as a Mechanism of Neurodevelopmental Disease.

rs1553252938 in EMC1;EMC1-AS1 gene and Movement Disorders

PMID 23105016 2013 Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes.

PMID 26942288 2016 Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.

rs1555911098 in EP300 gene and Movement Disorders

PMID 25712426 2015 Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome.

PMID 20014264 2010 Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein-Taybi syndrome.

PMID 12114483 2002 Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP.

PMID 18792986 2008 Genotype-phenotype correlations in Rubinstein-Taybi syndrome.

PMID 19353645 2009 Further case of Rubinstein-Taybi syndrome due to a deletion in EP300.

PMID 16428436 2006 Conditional knockout mice reveal distinct functions for the global transcriptional coactivators CBP and p300 in T-cell development.

PMID 15706485 2005 Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease.

PMID 11331617 2001 Defect of histone acetyltransferase activity of the nuclear transcriptional coactivator CBP in Rubinstein-Taybi syndrome.

PMID 20717166 2011 Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein-Taybi syndrome detected by aCGH.

PMID 26486927 2016 From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks.

PMID 17220215 2007 Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300.

PMID 17299436 2007 Confirmation of EP300 gene mutations as a rare cause of Rubinstein-Taybi syndrome.

PMID 13983033 1963 Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome.

PMID 26279656 2015 Exome Sequencing Identification of EP300 Mutation in a Proband with Coloboma and Imperforate Anus: Possible Expansion of the Phenotypic Spectrum of Rubinstein-Taybi Syndrome.

PMID 24476420 2015 Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene.

PMID 27465822 2016 Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum.

PMID 24352918 2014 Exome sequencing identifies a novel EP300 frame shift mutation in a patient with features that overlap Cornelia de Lange syndrome.

PMID 27648933 2016 Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations.

PMID 27964710 2016 First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant.

rs1242562412 in ERBB2;PGAP3 gene and Movement Disorders

PMID 28390064 2018 PGAP3-related hyperphosphatasia with mental retardation syndrome: Report of 10 new patients and a homozygous founder mutation.

PMID 17314402 2007 Fatty acid remodeling of GPI-anchored proteins is required for their raft association.

PMID 26077850 2015 High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders.

PMID 22265715 2012 GPI-anchor remodeling: potential functions of GPI-anchors in intracellular trafficking and membrane dynamics.

PMID 24439110 2014 Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.

rs1554794342 in ERCC6 gene and Movement Disorders

PMID 26204423 2016 The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care.

PMID 23428416 2013 Cockayne syndrome: the expanding clinical and mutational spectrum.

PMID 26749132 2016 Novel missense mutations in a conserved loop between ERCC6 (CSB) helicase motifs V and VI: Insights into Cockayne syndrome.

PMID 18628313 2008 Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation.

PMID 19894250 2010 Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.

PMID 1372469 1992 Xeroderma pigmentosum and Cockayne syndrome: overlapping clinical and biochemical phenotypes.

PMID 10767341 2000 Identical mutations in the CSB gene associated with either Cockayne syndrome or the DeSanctis-cacchione variant of xeroderma pigmentosum.

rs1553417206 in EXOC6B gene and Movement Disorders

PMID 26669664 2016 A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene.

rs1554260888 in EYA4 gene and Movement Disorders

PMID 27142990 2016 Research progress in pathogenic genes of hereditary non-syndromic mid-frequency deafness.

PMID 17567890 2007 Nonsyndromic hearing loss DFNA10 and a novel mutation of EYA4: evidence for correlation of normal cardiac phenotype with truncating mutations of the Eya domain.

PMID 15735644 2005 Mutation in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss.

rs754320812 in FBXL6;SLC52A2 gene and Movement Disorders

PMID 27702554 2016 SLC52A2 [p.P141T] and SLC52A3 [p.N21S] causing Brown-Vialetto-Van Laere Syndrome in an Indian patient: First genetically proven case with mutations in two riboflavin transporters.

PMID 24253200 2014 Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.

PMID 23107375 2012 The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives.

rs372754256 in FLG;FLG-AS1 gene and Movement Disorders

PMID 22542183 2012 De novo gene disruptions in children on the autistic spectrum.

PMID 21173567 2011 Filaggrin gene defects and the risk of developing allergic disorders.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 20790920 1966 Clinical features of autosomal dominant and sex-linked ichthyosis in an English population.

PMID 16444271 2006 Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.

PMID 17417636 2007 Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema.

rs899735028 in FLVCR1-DT;FLVCR1 gene and Movement Disorders

PMID 21070897 2010 Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa.

PMID 22279524 2012 Genetic mapping and exome sequencing identify variants associated with five novel diseases.

PMID 21267618 2011 Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1.

PMID 24628582 2015 Autosomal recessive posterior column ataxia with retinitis pigmentosa caused by novel mutations in the FLVCR1 gene.

PMID 27923065 2016 Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception.

PMID 9409377 1997 An autosomal recessive disorder with posterior column ataxia and retinitis pigmentosa.

rs1468358104 in FLVCR1;FLVCR1-DT gene and Movement Disorders

PMID 22279524 2012 Genetic mapping and exome sequencing identify variants associated with five novel diseases.

PMID 9409377 1997 An autosomal recessive disorder with posterior column ataxia and retinitis pigmentosa.

PMID 21267618 2011 Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1.

PMID 27923065 2016 Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception.

PMID 24628582 2015 Autosomal recessive posterior column ataxia with retinitis pigmentosa caused by novel mutations in the FLVCR1 gene.

PMID 21070897 2010 Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa.

rs1161032867 in FUS gene and Movement Disorders

PMID 20385912 2010 Novel FUS/TLS mutations and pathology in familial and sporadic amyotrophic lateral sclerosis.

PMID 19251627 2009 Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis.

PMID 26362943 2015 De novo FUS mutations are the most frequent genetic cause in early-onset German ALS patients.

PMID 23474818 2013 ALS mutant FUS disrupts nuclear localization and sequesters wild-type FUS within cytoplasmic stress granules.

PMID 22863194 2012 Exome sequencing identifies FUS mutations as a cause of essential tremor.

PMID 24280224 2014 Intranuclear aggregation of mutant FUS/TLS as a molecular pathomechanism of amyotrophic lateral sclerosis.

PMID 20577002 2010 SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations.

rs5030869 in G6PD gene and Movement Disorders

PMID 15735168 2005 An Ashkenazi Jewish woman presenting with favism.

PMID 9427729 1998 Mortality in a cohort of men expressing the glucose-6-phosphate dehydrogenase deficiency.

PMID 18177777 2008 Glucose-6-phosphate dehydrogenase deficiency.

PMID 2633878 1989 Glucose-6-phosphate dehydrogenase deficiency. WHO Working Group.

PMID 7283560 1981 Sickle cell trait and glucose-6-phosphate dehydrogenase deficiency. Effects on health and military performance in black Navy enlistees.

rs1555401440 in GABRB3 gene and Movement Disorders

PMID 26993267 2016 Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

PMID 28053010 2017 Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.

PMID 26950270 2016 Epileptic encephalopathy de novo GABRB mutations impair γ-aminobutyric acid type A receptor function.

PMID 18514161 2008 Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy.

PMID 24999380 2014 Genetic analysis of GABRB3 as a candidate gene of autism spectrum disorders.

PMID 26645412 2016 GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy.

PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

PMID 28607477 2017 GABA_A receptor subunit gene polymorphisms predict symptom-based and developmental deficits in Chinese Han children and adolescents with autistic spectrum disorders.

PMID 27476654 2016 De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.

PMID 28544625 2017 A mutation in GABRB3 associated with Dravet syndrome.

PMID 27622563 2016 Deleterious Rare Variants Reveal Risk for Loss of GABAA Receptor Function in Patients with Genetic Epilepsy and in the General Population.

rs1554100923 in GABRG2 gene and Movement Disorders

PMID 24407264 2014 A novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes.

PMID 12477709 2003 Childhood absence epilepsy and febrile seizures: a family with a GABA(A) receptor mutation.

PMID 20485450 2010 Mutational analysis of GABRG2 in a Japanese cohort with childhood epilepsies.

PMID 28460589 2018 Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype.

PMID 20551311 2010 GABA(A) receptor alpha1 subunit mutation A322D associated with autosomal dominant juvenile myoclonic epilepsy reduces the expression and alters the composition of wild type GABA(A) receptors.

PMID 24480790 2014 Association of nonsense mutation in GABRG2 with abnormal trafficking of GABAA receptors in severe epilepsy.

PMID 16924025 2006 A novel GABRG2 mutation associated with febrile seizures.

PMID 11326275 2001 Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures.

PMID 25726841 2015 Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes.

PMID 27340224 2016 Differential molecular and behavioural alterations in mouse models of GABRG2 haploinsufficiency versus dominant negative mutations associated with human epilepsy.

PMID 11326274 2001 First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene.

PMID 27066572 2015 Novel GABRG2 mutations cause familial febrile seizures.

PMID 11748509 2002 Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus.

PMID 27864268 2017 De novo GABRG2 mutations associated with epileptic encephalopathies.

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PMID 27367160 2016 Molecular Pathogenic Basis for GABRG2 Mutations Associated With a Spectrum of Epilepsy Syndromes, From Generalized Absence Epilepsy to Dravet Syndrome.

rs1555511101 in GAN gene and Movement Disorders

PMID 19231187 2009 Phenotypic variability in giant axonal neuropathy.

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PMID 17256086 2007 Giant axonal neuropathy.

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rs946006593 in GATAD2B gene and Movement Disorders

PMID 25356899 2014 De novo mutations in moderate or severe intellectual disability.

PMID 26944241 2016 Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic Experience.

PMID 23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.

PMID 23644463 2013 GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila.

rs1554200990 in GJA1 gene and Movement Disorders

PMID 16531323 2007 Functional characterization of oculodentodigital dysplasia-associated Cx43 mutants.

PMID 19338053 2009 GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype.

PMID 19615768 2010 Mutation analysis of Connexon43 gene in Chinese patients with congenital heart defects.

PMID 14974090 2004 A homozygous GJA1 gene mutation causes a Hallermann-Streiff/ODDD spectrum phenotype.

PMID 12457340 2003 Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia.

PMID 23675785 2014 Overview of skin diseases linked to connexin gene mutations.

PMID 28106320 2017 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications.

PMID 24133447 2013 Neurological manifestations of oculodentodigital dysplasia: a Cx43 channelopathy of the central nervous system?

PMID 16816024 2006 A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital syndrome.

PMID 27241686 2016 A novel GJA1 mutation identified by whole exome sequencing in a Chinese family with autosomal dominant syndactyly.

PMID 27226478 2016 Specific functional pathologies of Cx43 mutations associated with oculodentodigital dysplasia.

PMID 25976645 2015 A novel truncation mutation in GJA1 associated with open angle glaucoma and microcornea in a large Chinese family.

rs1555937168 in GJB1 gene and Movement Disorders

PMID 22771394 2012 How do mutations in GJB1 cause X-linked Charcot-Marie-Tooth disease?

PMID 12477701 2003 Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients.

PMID 26385972 2016 A Review of X-linked Charcot-Marie-Tooth Disease.

PMID 23773993 2013 Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1).

PMID 17353473 2007 CMT1X phenotypes represent loss of GJB1 gene function.

PMID 21692908 2011 Phenotype expression in women with CMT1X.

PMID 21282593 2011 A retrospective review of X-linked Charcot-Marie-Tooth disease in childhood.

PMID 15852376 2005 Severe neuropathy with leaky connexin32 hemichannels.

PMID 28097225 2017 Centrally involved X-linked Charcot-Marie-Tooth disease presenting as a stroke-mimic.

PMID 27844031 2016 Clinical and biophysical characterization of 19 GJB1 mutations.

rs1553262429 in GJC2 gene and Movement Disorders

PMID 23621851 2013 The classification and diagnostic algorithm for primary lymphatic dysplasia: an update from 2010 to include molecular findings.

PMID 22610664 2012 A novel GJC2 mutation associated with hypomyelination and Müllerian agenesis syndrome: coincidence or a new entity?

PMID 21266381 2011 Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype.

PMID 24374284 2014 GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease.

PMID 15192806 2004 Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease.

PMID 20537300 2010 GJC2 missense mutations cause human lymphedema.

PMID 19056803 2009 Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations.

rs797044951 in GNAO1 gene and Movement Disorders

PMID 27068059 2016 Clinical Course of Six Children With GNAO1 Mutations Causing a Severe and Distinctive Movement Disorder.

PMID 25590979 2015 Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.

PMID 26060304 2016 Progressive Movement Disorder in Brothers Carrying a GNAO1 Mutation Responsive to Deep Brain Stimulation.

PMID 9050846 1997 G alpha(o) is necessary for muscarinic regulation of Ca2+ channels in mouse heart.

PMID 25966631 2016 Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay.

PMID 21220323 2011 Augmented glucose-induced insulin release in mice lacking G(o2), but not G(o1) or G(i) proteins.

PMID 23993195 2013 De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy.

PMID 28747448 2017 Movement disorder in GNAO1 encephalopathy associated with gain-of-function mutations.

PMID 28503590 2019 Clinical Phenotype of De Novo GNAO1 Mutation: Case Report and Review of Literature.

PMID 28357411 2017 GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome.

PMID 26485252 2015 Clinical whole-exome sequencing reveals a novel missense pathogenic variant of GNAO1 in a patient with infantile-onset epilepsy.

rs1437184398 in GPT2 gene and Movement Disorders

PMID 29226631 2018 Novel compound heterozygous mutations in GPT2 linked to microcephaly, and intellectual developmental disability with or without spastic paraplegia.

PMID 27601654 2016 Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features.

PMID 28130718 2017 A Homozygous Mutation in GPT2 Associated with Nonsyndromic Intellectual Disability in a Consanguineous Family from Costa Rica.

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PMID 25758935 2015 Loss of function mutation in glutamic pyruvate transaminase 2 (GPT2) causes developmental encephalopathy.

rs1555050165 in GRIA4 gene and Movement Disorders

PMID 26482601 2016 High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders.

PMID 25167861 2014 Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.

PMID 26648591 2016 Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion.

PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

PMID 24721225 2014 X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes.

PMID 25864721 2015 GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders.

PMID 21376300 2011 Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.

PMID 8254358 1993 The differential expression of 16 NMDA and non-NMDA receptor subunits in the rat spinal cord and in periaqueductal gray.

PMID 21857658 2011 A new mode of corticothalamic transmission revealed in the Gria4(-/-) model of absence epilepsy.

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PMID 16487682 2006 NMDA-NR1 and AMPA-GluR4 receptor subunit immunoreactivities in the absence epileptic WAG/Rij rat.

PMID 18316356 2008 Absence seizures in C3H/HeJ and knockout mice caused by mutation of the AMPA receptor subunit Gria4.

PMID 20007474 2009 Atypical functional properties of GluK3-containing kainate receptors.

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PMID 19224531 2009 Glutamate receptors on myelinated spinal cord axons: II. AMPA and GluR5 receptors.

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PMID 11340205 2001 Glia-synapse interaction through Ca2+-permeable AMPA receptors in Bergmann glia.

PMID 17989220 2007 Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans.

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rs797045047 in GRIN1 gene and Movement Disorders

PMID 28051072 2017 Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy.

PMID 28389307 2017 De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy.

PMID 27164704 2016 Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.

PMID 17315208 2007 Model of infantile spasms induced by N-methyl-D-aspartic acid in prenatally impaired brain.

PMID 23933818 2013 GRIN2A mutations cause epilepsy-aphasia spectrum disorders.

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PMID 20890276 2010 Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.

PMID 16635252 2006 Knocking-down the NMDAR1 subunit in a limited amount of neurons in the rat hippocampus impairs learning.

PMID 25864721 2015 GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders.

PMID 9526012 1998 Evidence for a tetrameric structure of recombinant NMDA receptors.

PMID 2516786 1989 Luteinizing hormone and follicle stimulating hormone secretion patterns in boys throughout puberty measured using highly sensitive immunoradiometric assays.

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PMID 22606296 2012 Overstimulation of NMDA receptors impairs early brain development in vivo.

PMID 25838242 2015 The GluN2B subunit of N-methy-D-asparate receptor regulates the radial migration of cortical neurons in vivo.

PMID 21376300 2011 Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.

PMID 17910072 2007 The chromosome 9q subtelomere deletion syndrome.

PMID 25167861 2014 Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.

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rs387906639 in HARS1;DND1 gene and Movement Disorders

PMID 27353947 2016 Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.

PMID 22279524 2012 Genetic mapping and exome sequencing identify variants associated with five novel diseases.

PMID 22930593 2013 A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo.

PMID 26072516 2015 Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.

rs1554216308 in HDAC3 gene and Movement Disorders

PMID 18830415 2008 Maintenance of cardiac energy metabolism by histone deacetylase 3 in mice.

PMID 17416969 2007 Distribution of histone deacetylases 1-11 in the rat brain.

PMID 17158926 2007 Histone deacetylase 3 interacts with and deacetylates myocyte enhancer factor 2.

PMID 25800122 2015 HDAC8-deficiency causes an X-linked dominant disorder with a wide range of severity.

PMID 19109904 2008 Decoding the epigenetic language of neuronal plasticity.

PMID 25425123 2015 A new syndrome of intellectual disability with dysmorphism due to TBL1XR1 deletion.

PMID 10491319 1999 Cloning and characterization of the murine histone deacetylase (HDAC3).

PMID 23770587 2013 Activity-dependent phosphorylation of MeCP2 threonine 308 regulates interaction with NCoR.

PMID 11742974 2001 Valproic acid defines a novel class of HDAC inhibitors inducing differentiation of transformed cells.

PMID 10860984 2000 The histone deacetylase-3 complex contains nuclear receptor corepressors.

PMID 10944117 2000 Both corepressor proteins SMRT and N-CoR exist in large protein complexes containing HDAC3.

PMID 15837933 2005 Structural insights into the interaction and activation of histone deacetylase 3 by nuclear receptor corepressors.

PMID 10748092 2000 N-terminal region, C-terminal region, nuclear export signal, and deacetylation activity of histone deacetylase-3 are essential for the viability of the DT40 chicken B cell line.

PMID 11509652 2001 The SMRT and N-CoR corepressors are activating cofactors for histone deacetylase 3.

PMID 15897262 2005 Histone modifications affect timing of oligodendrocyte progenitor differentiation in the developing rat brain.

PMID 25209348 2015 Cornelia de Lange syndrome.

PMID 22230954 2012 Structure of HDAC3 bound to co-repressor and inositol tetraphosphate.

PMID 21545841 2011 Probing the role of HDACs and mechanisms of chromatin-mediated neuroplasticity.

PMID 27543892 2016 A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia.

PMID 25339172 2014 Histone deacetylase 3 is necessary for proper brain development.

PMID 22363205 2012 Histone deacetylase complexes promote trinucleotide repeat expansions.

PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

PMID 25102098 2014 A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation.

PMID 22495309 2012 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

PMID 20691407 2010 Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems.

rs121907960 in HEXA gene and Movement Disorders

PMID 17412732 2007 The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene.

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PMID 19330222 2009 Late-onset hexosaminidase A deficiency mimicking primary lateral sclerosis.

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PMID 15714079 2005 Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients.

PMID 8230592 1993 Tay-Sachs disease--carrier screening, prenatal diagnosis, and the molecular era. An international perspective, 1970 to 1993. The International TSD Data Collection Network.

PMID 19858779 2010 Improving accuracy of Tay Sachs carrier screening of the non-Jewish population: analysis of 34 carriers and six late-onset patients with HEXA enzyme and DNA sequence analysis.

PMID 12108829 2002 Tay-Sachs disease screening and counseling families at risk for metabolic disease.

rs1387003933 in HIKESHI gene and Movement Disorders

PMID 28000699 2017 Absence of Hikeshi, a nuclear transporter for heat-shock protein HSP70, causes infantile hypomyelinating leukoencephalopathy.

PMID 25760597 2015 Structural and functional analysis of Hikeshi, a new nuclear transport receptor of Hsp70s.

PMID 26545878 2016 Leukoencephalopathy and early death associated with an Ashkenazi-Jewish founder mutation in the Hikeshi gene.

rs1556026984 in HPRT1 gene and Movement Disorders

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PMID 23975452 2014 Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder.

PMID 25612837 2015 New biomarkers for early diagnosis of Lesch-Nyhan disease revealed by metabolic analysis on a large cohort of patients.

rs1553666546 in ITPR1 gene and Movement Disorders

PMID 18579805 2008 Total deletion and a missense mutation of ITPR1 in Japanese SCA15 families.

PMID 21367767 2011 Spinocerebellar ataxia type 15: diagnostic assessment, frequency, and phenotypic features.

PMID 27108798 2016 A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.

PMID 17590087 2007 Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans.

PMID 25574826 2015 CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease.

PMID 14981189 2004 Japanese SCA families with an unusual phenotype linked to a locus overlapping with SCA15 locus.

PMID 23495097 2013 Levetiracetam-responsive myoclonus in spinocerebellar ataxia type 15.

PMID 28488678 2017 A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers.

PMID 26770814 2016 ITPR1 gene p.Val1553Met mutation in Russian family with mild Spinocerebellar ataxia.

PMID 17030759 2006 The contactin 4 gene locus at 3p26 is a candidate gene of SCA16.

PMID 25794864 2015 Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene.

PMID 22986007 2012 Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia.

PMID 12611586 2003 Carbonic anhydrase-related protein is a novel binding protein for inositol 1,4,5-trisphosphate receptor type 1.

PMID 11445634 2001 A novel autosomal dominant spinocerebellar ataxia (SCA16) linked to chromosome 8q22.1-24.1.

rs786205232 in KCNA2 gene and Movement Disorders

PMID 16075038 2005 The channelopathies: novel insights into molecular and genetic mechanisms of human disease.

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PMID 17634333 2007 Seizures and reduced life span in mice lacking the potassium channel subunit Kv1.2, but hypoexcitability and enlarged Kv1 currents in auditory neurons.

PMID 1377421 1992 An essential 'set' of K+ channels conserved in flies, mice and humans.

PMID 14765197 2004 A proton pore in a potassium channel voltage sensor reveals a focused electric field.

PMID 16704338 2006 How does voltage open an ion channel?

PMID 15694325 2005 Voltage-sensing arginines in a potassium channel permeate and occlude cation-selective pores.

PMID 21044565 2010 Effect of sensor domain mutations on the properties of voltage-gated ion channels: molecular dynamics studies of the potassium channel Kv1.2.

PMID 20696761 2010 A new Kv1.2 channelopathy underlying cerebellar ataxia.

PMID 16002579 2005 Voltage sensor of Kv1.2: structural basis of electromechanical coupling.

PMID 1706481 1991 Determination of the subunit stoichiometry of a voltage-activated potassium channel.

PMID 12214225 2002 The voltage-gated potassium channels and their relatives.

PMID 11331357 2001 Histidine scanning mutagenesis of basic residues of the S4 segment of the shaker k+ channel.

PMID 12127166 2002 Contributions of Kv1.2, Kv1.5 and Kv2.1 subunits to the native delayed rectifier K(+) current in rat mesenteric artery smooth muscle cells.

PMID 9525859 1998 The structure of the potassium channel: molecular basis of K+ conduction and selectivity.

PMID 27062609 2017 Rett-like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5-related disease.

PMID 8663993 1996 Contribution of the S4 segment to gating charge in the Shaker K+ channel.

PMID 28019717 2017 Reply.

PMID 8158277 1994 Contrasting subcellular localization of the Kv1.2 K+ channel subunit in different neurons of rat brain.

PMID 28032718 2017 De novo KCNA2 mutations cause hereditary spastic paraplegia.

PMID 8663992 1996 Voltage-sensing residues in the S2 and S4 segments of the Shaker K+ channel.

PMID 27543892 2016 A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia.

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PMID 27733563 2016 Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy.

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PMID 27117551 2016 Severe early-onset epileptic encephalopathy due to mutations in the KCNA2 gene: Expansion of the genotypic and phenotypic spectrum.

PMID 25751627 2015 De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.

PMID 25477152 2015 Ataxia and myoclonic epilepsy due to a heterozygous new mutation in KCNA2: proposal for a new channelopathy.

rs1554086554 in KCNN2 gene and Movement Disorders

PMID 10200319 1999 An apamin-sensitive Ca2+-activated K+ current in hippocampal pyramidal neurons.

PMID 15190101 2004 Small conductance Ca2+-activated K+ channel knock-out mice reveal the identity of calcium-dependent afterhyperpolarization currents.

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PMID 23430260 2013 Mitochondrial small conductance SK2 channels prevent glutamate-induced oxytosis and mitochondrial dysfunction.

PMID 15234350 2004 Comparative immunohistochemical distribution of three small-conductance Ca2+-activated potassium channel subunits, SK1, SK2, and SK3 in mouse brain.

PMID 21942705 2012 Small-conductance Ca2+-activated K+ channels: form and function.

PMID 15184377 2004 Overactive bladder and incontinence in the absence of the BK large conductance Ca2+-activated K+ channel.

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PMID 19075508 2008 K(+)-channel openers suppress epileptiform activities induced by 4-aminopyridine in cultured rat hippocampal neurons.

PMID 17329434 2007 Organization and regulation of small conductance Ca2+-activated K+ channel multiprotein complexes.

PMID 21923633 2011 Targeting BK (big potassium) channels in epilepsy.

PMID 20553876 2010 Altered expression and function of small-conductance (SK) Ca(2+)-activated K+ channels in pilocarpine-treated epileptic rats.

PMID 24434522 2014 Subcellular expression and neuroprotective effects of SK channels in human dopaminergic neurons.

PMID 11181977 2001 On the cellular and network bases of epileptic seizures.

PMID 19515965 2009 Selective activation of the SK1 subtype of human small-conductance Ca2+-activated K+ channels by 4-(2-methoxyphenylcarbamoyloxymethyl)-piperidine-1-carboxylic acid tert-butyl ester (GW542573X) is dependent on serine 293 in the S5 segment.

PMID 26166566 2015 UBE3A Regulates Synaptic Plasticity and Learning and Memory by Controlling SK2 Channel Endocytosis.

PMID 25917818 2015 Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders.

PMID 15937479 2005 Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder.

PMID 27048600 2016 De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features.

rs1555869758 in KCNQ2 gene and Movement Disorders

PMID 28602030 2017 Variable expressivity of a likely pathogenic variant in KCNQ2 in a three-generation pedigree presenting with intellectual disability with childhood onset seizures.

PMID 26993267 2016 Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

PMID 9425895 1998 A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns.

PMID 6965523 1980 Muscarinic suppression of a novel voltage-sensitive K+ current in a vertebrate neurone.

PMID 9430594 1998 A potassium channel mutation in neonatal human epilepsy.

PMID 23849776 2013 Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.

PMID 24107868 2013 Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients.

PMID 22169383 2012 Neonatal seizures associated with a severe neonatal myoclonus like dyskinesia due to a familial KCNQ2 gene mutation.

PMID 23621294 2013 Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.

PMID 24318194 2014 Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy.

PMID 25982755 2015 Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome.

PMID 15608631 2005 Conditional transgenic suppression of M channels in mouse brain reveals functions in neuronal excitability, resonance and behavior.

PMID 8327138 1993 Seizure characteristics in chromosome 20 benign familial neonatal convulsions.

PMID 17872363 2007 Peripheral nerve hyperexcitability due to dominant-negative KCNQ2 mutations.

PMID 29129156 2017 A Case of KCNQ2-Associated Movement Disorder Triggered by Fever.

PMID 18238816 2008 Nervous system KV7 disorders: breakdown of a subthreshold brake.

PMID 16829045 2006 Ohtahara syndrome: with special reference to its developmental aspects for differentiating from early myoclonic encephalopathy.

PMID 14985406 2004 Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interaction.

PMID 27861786 2017 Infantile spasms and encephalopathy without preceding neonatal seizures caused by KCNQ2 R198Q, a gain-of-function variant.

PMID 22275249 2012 KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.

PMID 27602407 2016 KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients.

PMID 17675531 2007 Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures.

PMID 22926866 2012 Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome.

PMID 20196795 2010 Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009.

PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

PMID 10781098 2000 Colocalization and coassembly of two human brain M-type potassium channel subunits that are mutated in epilepsy.

PMID 11572947 2001 Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel.

PMID 12742592 2003 Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2.

PMID 10323247 1999 Structural and mutational analysis of KCNQ2, the major gene locus for benign familial neonatal convulsions.

rs1555873985 in KCNQ2;KCNQ2-AS1 gene and Movement Disorders

PMID 22275249 2012 KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.

PMID 17675531 2007 Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures.

PMID 10323247 1999 Structural and mutational analysis of KCNQ2, the major gene locus for benign familial neonatal convulsions.

PMID 14985406 2004 Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interaction.

PMID 20196795 2010 Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009.

PMID 11572947 2001 Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel.

PMID 10781098 2000 Colocalization and coassembly of two human brain M-type potassium channel subunits that are mutated in epilepsy.

PMID 12742592 2003 Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2.

PMID 23621294 2013 Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.

PMID 22169383 2012 Neonatal seizures associated with a severe neonatal myoclonus like dyskinesia due to a familial KCNQ2 gene mutation.

PMID 27602407 2016 KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients.

PMID 16829045 2006 Ohtahara syndrome: with special reference to its developmental aspects for differentiating from early myoclonic encephalopathy.

PMID 15608631 2005 Conditional transgenic suppression of M channels in mouse brain reveals functions in neuronal excitability, resonance and behavior.

PMID 23849776 2013 Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.

PMID 18238816 2008 Nervous system KV7 disorders: breakdown of a subthreshold brake.

PMID 17872363 2007 Peripheral nerve hyperexcitability due to dominant-negative KCNQ2 mutations.

PMID 9430594 1998 A potassium channel mutation in neonatal human epilepsy.

PMID 28602030 2017 Variable expressivity of a likely pathogenic variant in KCNQ2 in a three-generation pedigree presenting with intellectual disability with childhood onset seizures.

PMID 6965523 1980 Muscarinic suppression of a novel voltage-sensitive K+ current in a vertebrate neurone.

PMID 8327138 1993 Seizure characteristics in chromosome 20 benign familial neonatal convulsions.

PMID 22926866 2012 Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome.

PMID 24107868 2013 Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients.

PMID 25982755 2015 Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome.

PMID 29129156 2017 A Case of KCNQ2-Associated Movement Disorder Triggered by Fever.

PMID 27861786 2017 Infantile spasms and encephalopathy without preceding neonatal seizures caused by KCNQ2 R198Q, a gain-of-function variant.

PMID 26993267 2016 Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

PMID 9425895 1998 A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns.

PMID 24318194 2014 Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy.

PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

rs1554397774 in KCTD7 gene and Movement Disorders

PMID 22638565 2012 A compound heterozygous missense mutation and a large deletion in the KCTD7 gene presenting as an opsoclonus-myoclonus ataxia-like syndrome.

PMID 25060828 2014 Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxia.

PMID 17455289 2007 Mutation of a potassium channel-related gene in progressive myoclonic epilepsy.

PMID 21710140 2011 Progressive myoclonic epilepsy-associated gene KCTD7 is a regulator of potassium conductance in neurons.

PMID 22693283 2012 Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene.

PMID 22606975 2012 Novel mutation in potassium channel related gene KCTD7 and progressive myoclonic epilepsy.

PMID 22748208 2012 A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.

PMID 19084560 2009 Neuronal ceroid lipofuscinoses.

PMID 27742667 2016 Pathogenic variants in KCTD7 perturb neuronal K+ fluxes and glutamine transport.

PMID 15778103 2005 Progressive myoclonic epilepsies: a review of genetic and therapeutic aspects.

rs1553637932 in KIF1A gene and Movement Disorders

PMID 28835676 2017 Homozygous p.Ser267Phe in SLC10A1 is associated with a new type of hypercholanemia and implications for personalized medicine.

PMID 28362824 2017 Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia.

PMID 26354034 2015 De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance.

PMID 28708278 2018 Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families.

PMID 25585697 2015 Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia.

PMID 22258533 2012 KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations.

PMID 26410750 2015 Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis.

PMID 28332297 2017 Hereditary spastic paraplegia caused by compound heterozygous mutations outside the motor domain of the KIF1A gene.

PMID 26125038 2015 De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy.

PMID 27034427 2016 Novel De Novo Mutations in KIF1A as a Cause of Hereditary Spastic Paraplegia With Progressive Central Nervous System Involvement.

PMID 26486474 2016 De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.

PMID 21820098 2011 KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2.

PMID 25265257 2015 De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy.

PMID 21487076 2011 Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis.

PMID 21376300 2011 Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.

rs1555046615 in KMT2A gene and Movement Disorders

PMID 8634439 1996 Distribution of 11q23 breakpoints within the MLL breakpoint cluster region in de novo acute leukemia and in treatment-related acute myeloid leukemia: correlation with scaffold attachment regions and topoisomerase II consensus binding sites.

PMID 8361504 1993 Rearrangement of the MLL gene in acute lymphoblastic and acute myeloid leukemias with 11q23 chromosomal translocations.

PMID 28359930 2017 Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature.

PMID 27777327 2017 Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations.

PMID 7802037 1994 "Hypertrichosis ""cubiti"" with facial asymmetry."

PMID 7583381 1995 Abnormalities of chromosome band 11q23 and the MLL gene in pediatric myelomonocytic and monoblastic leukemias. Identification of the t(9;11) as an indicator of long survival.

PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

PMID 22795537 2012 De novo mutations in MLL cause Wiedemann-Steiner syndrome.

PMID 22197486 2012 Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome.

PMID 20711175 2010 Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.

PMID 25810209 2016 Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations.

PMID 22077973 2011 Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.

PMID 20541448 2010 Multiple interactions recruit MLL1 and MLL1 fusion proteins to the HOXA9 locus in leukemogenesis.

PMID 12453418 2002 MLL targets SET domain methyltransferase activity to Hox gene promoters.

PMID 25574841 2015 Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.

PMID 25186178 2014 Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome.

PMID 24886118 2014 De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing.

PMID 2738900 1989 Hypertrichosis cubiti (hairy elbows) and short stature: a recognisable association.

PMID 25724810 2015 Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.

PMID 23457195 2013 Primary mediastinal large B-cell lymphoma segregating in a family: exome sequencing identifies MLL as a candidate predisposition gene.

PMID 25929198 2015 A de novo Mutation in KMT2A (MLL) in monozygotic twins with Wiedemann-Steiner syndrome.

PMID 27759909 2017 Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome.

rs1555729045 in KMT2B gene and Movement Disorders

PMID 23426673 2013 Histone-methyltransferase MLL2 (KMT2B) is required for memory formation in mice.

PMID 10409430 1999 MLL2: A new mammalian member of the trx/MLL family of genes.

PMID 27320412 2016 Congenital immunodeficiency in an individual with Wiedemann-Steiner syndrome due to a novel missense mutation in KMT2A.

PMID 19344873 2009 DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.

PMID 16540515 2006 Multiple epigenetic maintenance factors implicated by the loss of Mll2 in mouse development.

PMID 27992417 2017 Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

PMID 21892160 2011 Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans.

PMID 25405613 2014 Exome sequencing identifies three novel candidate genes implicated in intellectual disability.

PMID 27839873 2016 Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia.

rs587783685 in KMT2D gene and Movement Disorders

PMID 27568880 2016 Kabuki syndrome as a cause of non-immune fetal hydrops/ascites.

PMID 27573763 2016 A novel KMT2D mutation resulting in Kabuki syndrome: A case report.

PMID 28256057 2017 Interrupted/bipartite clavicle as a diagnostic clue in Kabuki syndrome.

PMID 28884922 2017 Congenital heart defects in molecularly proven Kabuki syndrome patients.

PMID 3067577 1988 Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients.

PMID 27991736 2017 KMT2D p.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection.

PMID 27778401 2017 Pilomatricoma Associated with Kabuki Syndrome.

PMID 28884889 2017 Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45.

PMID 26194542 2016 Defects of B-cell terminal differentiation in patients with type-1 Kabuki syndrome.

PMID 26049589 2015 Kabuki syndrome: expanding the phenotype to include microphthalmia and anophthalmia.

PMID 28295206 2017 Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations.

PMID 26898171 2016 Recurrent giant cell fibroblastoma: Malignancy predisposition in Kabuki syndrome revisited.

PMID 20711175 2010 Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.

PMID 22304445 2013 Multiple pilomatricomas in Kabuki syndrome.

PMID 21280141 2011 MLL2 mutation spectrum in 45 patients with Kabuki syndrome.

PMID 14699623 2004 Hepatic fibrosis in Kabuki syndrome.

PMID 22126750 2012 How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum.

PMID 23320472 2013 MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.

PMID 14608645 2003 Coloboma and other ophthalmologic anomalies in Kabuki syndrome: distinction from charge association.

PMID 21671394 2011 Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome.

PMID 16603732 2006 Identification of the MLL2 complex as a coactivator for estrogen receptor alpha.

PMID 12482968 2003 Activating signal cointegrator 2 belongs to a novel steady-state complex that contains a subset of trithorax group proteins.

PMID 21658225 2011 Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients.

PMID 25972376 2015 Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development.

PMID 9285441 1997 Kabuki make-up (Niikawa-Kuroki) syndrome: cognitive abilities and autistic features.

rs767889331 in LAMA1 gene and Movement Disorders

PMID 25105227 2014 Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy.

PMID 20048158 2010 Mutations in Lama1 disrupt retinal vascular development and inner limiting membrane formation.

PMID 21937992 2011 Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

PMID 27095636 2016 Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects.

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PMID 24013853 2014 Ataxia, intellectual disability, and ocular apraxia with cerebellar cysts: a new disease?

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PMID 19854944 2010 The NCBI BioSystems database.

PMID 2591971 1989 Human laminin A chain (LAMA) gene: chromosomal mapping to locus 18p11.3.

PMID 9151674 1997 The laminin alpha chains: expression, developmental transitions, and chromosomal locations of alpha1-5, identification of heterotrimeric laminins 8-11, and cloning of a novel alpha3 isoform.

PMID 23161681 2013 Update on activities at the Universal Protein Resource (UniProt) in 2013.

PMID 6795355 1981 Shapes, domain organizations and flexibility of laminin and fibronectin, two multifunctional proteins of the extracellular matrix.

PMID 10607917 1999 Restricted distribution of laminin alpha1 chain in normal adult mouse tissues.

rs121917995 in LOC102724058;SCN1A-AS1;SCN1A gene and Movement Disorders

PMID 9126059 1997 Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes.

PMID 20879882 2010 Timing of de novo mutagenesis--a twin study of sodium-channel mutations.

PMID 21248271 2011 Genotype-phenotype associations in SCN1A-related epilepsies.

PMID 24836964 2014 Dravet syndrome--from epileptic encephalopathy to channelopathy.

PMID 24097157 2014 Structure and function of voltage-gated sodium channels at atomic resolution.

PMID 22409937 2012 Progressive gait deterioration in adolescents with Dravet syndrome.

PMID 21463290 2011 Dravet syndrome and parent associations: the IDEA League experience with comorbid conditions, mortality, management, adaptation, and grief.

PMID 21269283 2011 Cognitive development in Dravet syndrome: a retrospective, multicenter study of 26 patients.

PMID 22719002 2012 Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome.

PMID 18413471 2008 Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified.

PMID 17561957 2007 Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.

PMID 16430863 2006 Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy.

PMID 18930999 2009 Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients.

PMID 15880351 2005 SCN1A mutations and epilepsy.

PMID 17347258 2007 The spectrum of SCN1A-related infantile epileptic encephalopathies.

PMID 10742094 2000 Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.

PMID 19400878 2009 SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis.

PMID 15508915 2005 Severe myoclonic epilepsy in infancy: Dravet syndrome.

PMID 11359211 2001 De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy.

rs113994048 in LOC105374249;EIF2B5 gene and Movement Disorders

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PMID 9710032 1998 Phenotypic variation in leukoencephalopathy with vanishing white matter.

PMID 12707859 2003 Ovarian failure related to eukaryotic initiation factor 2B mutations.

PMID 25089094 2014 Vanishing white matter disease in a spanish population.

rs34637584 in LRRK2 gene and Movement Disorders

PMID 17200152 2007 Parkinson's disease-associated mutations in LRRK2 link enhanced GTP-binding and kinase activities to neuronal toxicity.

PMID 25330418 2014 Disease penetrance of late-onset parkinsonism: a meta-analysis.

PMID 18213618 2008 Comprehensive analysis of LRRK2 in publicly available Parkinson's disease cases and neurologically normal controls.

PMID 24243757 2013 Parkinson disease phenotype in Ashkenazi Jews with and without LRRK2 G2019S mutations.

PMID 28103901 2017 Pathogenic LRRK2 variants are gain-of-function mutations that enhance LRRK2-mediated repression of β-catenin signaling.

PMID 16102999 2005 Clinical traits of LRRK2-associated Parkinson's disease in Ireland: a link between familial and idiopathic PD.

PMID 15541309 2004 Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology.

PMID 16157901 2005 LRRK2 gene in Parkinson disease: mutation analysis and case control association study.

rs1555706706 in MAN2B1 gene and Movement Disorders

PMID 12816222 2003 Hearing loss due to mannosidosis and otitis media with effusion. A case report and review of audiological assessments in children with otitis media with effusion.

PMID 9758606 1998 Missense and nonsense mutations in the lysosomal alpha-mannosidase gene (MANB) in severe and mild forms of alpha-mannosidosis.

PMID 7307317 1981 Mannosidosis: two brothers with different degrees of disease severity.

PMID 26048034 2015 Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation.

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rs1557137745 in MECP2 gene and Movement Disorders

PMID 24458799 2014 MECP2 duplication: possible cause of severe phenotype in females.

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PMID 8177735 1993 Dissection of the methyl-CpG binding domain from the chromosomal protein MeCP2.

PMID 27354166 2016 Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study.

PMID 23421866 2013 Using a large international sample to investigate epilepsy in Rett syndrome.

PMID 18337588 2008 Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome.

PMID 11227330 2001 Epilepsy in a representative series of Rett syndrome.

PMID 11035019 2001 DNA recognition by the methyl-CpG binding domain of MeCP2.

PMID 17267601 2007 Partial rescue of MeCP2 deficiency by postnatal activation of MeCP2.

PMID 12615169 2003 Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2).

PMID 17236109 2006 Male Rett phenotypes in T158M and R294X MeCP2-mutations.

PMID 17351020 2007 MECP2 mutations in males.

PMID 15057977 2004 Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome.

PMID 21154482 2010 Rett syndrome: revised diagnostic criteria and nomenclature.

PMID 11058114 2000 Functional consequences of Rett syndrome mutations on human MeCP2.

PMID 15558314 2005 Macrocephalic mental retardation associated with a novel C-terminal MECP2 frameshift deletion.

PMID 16832102 2006 Early progressive encephalopathy in boys and MECP2 mutations.

PMID 16169931 2006 Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH.

PMID 10508514 1999 Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.

rs1555243099 in MED13L gene and Movement Disorders

PMID 29159987 2018 MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.

PMID 24896178 2014 Genome sequencing identifies major causes of severe intellectual disability.

PMID 28371282 2017 MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism.

PMID 5167861 1971 [Criteria in the evaluation of blood picture for the diagnosis of bovine leukosis].

PMID 28588821 2017 Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and MED13L haploinsufficiency syndromes.

PMID 27899622 2017 UniProt: the universal protein knowledgebase.

PMID 25167861 2014 Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.

PMID 28645799 2017 Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation.

PMID 25356899 2014 De novo mutations in moderate or severe intellectual disability.

PMID 25758992 2015 Redefining the MED13L syndrome.

PMID 25712080 2015 Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome.

PMID 24781760 2015 Further confirmation of the MED13L haploinsufficiency syndrome.

PMID 23403903 2013 Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 25137640 2014 Impaired development of neural-crest cell-derived organs and intellectual disability caused by MED13L haploinsufficiency.

PMID 14638541 2003 Missense mutations and gene interruption in PROSIT240, a novel TRAP240-like gene, in patients with congenital heart defect (transposition of the great arteries).

rs1554139771 in MEF2C gene and Movement Disorders

PMID 23389741 2013 MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways.

PMID 27255693 2016 MEF2C haploinsufficiency syndrome: Report of a new MEF2C mutation and review.

PMID 22670137 2012 The MEF2C-Related and 5q14.3q15 Microdeletion Syndrome.

PMID 17959722 2007 MEF2: a central regulator of diverse developmental programs.

PMID 18579729 2008 Myocyte enhancer factor 2C as a neurogenic and antiapoptotic transcription factor in murine embryonic stem cells.

PMID 22498567 2012 Genetic analysis of essential cardiac transcription factors in 256 patients with non-syndromic congenital heart defects.

PMID 22495311 2012 Patterns and rates of exonic de novo mutations in autism spectrum disorders.

PMID 20513142 2010 Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression.

PMID 19471318 2009 A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients.

PMID 19592390 2010 MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations.

rs1556837420 in MIR6895;KDM5C gene and Movement Disorders

PMID 18697827 2008 Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia.

PMID 17320160 2007 The X-linked mental retardation gene SMCX/JARID1C defines a family of histone H3 lysine 4 demethylases.

PMID 19826449 2010 Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation.

PMID 16541399 2006 Novel JARID1C/SMCX mutations in patients with X-linked mental retardation.

PMID 15586325 2005 Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation.

PMID 24583395 2014 KDM5C mutational screening among males with intellectual disability suggestive of X-Linked inheritance and review of the literature.

PMID 26919706 2016 Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved?

PMID 17468742 2007 The histone H3K4 demethylase SMCX links REST target genes to X-linked mental retardation.

PMID 18203167 2008 A novel mutation in JARID1CSMCX in a patient with autism spectrum disorder (ASD).

PMID 27421841 2016 Patient Mutations of the Intellectual Disability Gene KDM5C Downregulate Netrin G2 and Suppress Neurite Growth in Neuro2a Cells.

PMID 23999528 2014 Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations.

PMID 25666439 2015 Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity.

rs121918243 in MMACHC gene and Movement Disorders

PMID 25398587 2014 Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy.

PMID 21748409 2012 Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management.

PMID 26283149 2015 MMACHC gene mutation in familial hypogonadism with neurological symptoms.

PMID 19370762 2009 Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations.

PMID 16311595 2006 Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.

PMID 26658511 2015 Cobalamin C Deficiency Shows a Rapidly Progressing Maculopathy With Severe Photoreceptor and Ganglion Cell Loss.

PMID 16714133 2006 Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations.

rs1553259529 in MPZ gene and Movement Disorders

PMID 21840889 2011 Genetic spectrum of hereditary neuropathies with onset in the first year of life.

PMID 26310628 2015 Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.

PMID 9595994 1998 Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene.

PMID 23290023 2013 Congenital hypomyelinating neuropathy attributable to a de novo p.Asp61Asn mutation of the myelin protein zero gene.

PMID 15004559 2004 Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations.

PMID 14638973 2003 Late onset Charcot-Marie-Tooth 2 syndrome caused by two novel mutations in the MPZ gene.

PMID 10406984 1999 Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy.

PMID 19293842 2009 Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies.

PMID 10764043 2000 "Charcot-Marie-Tooth neuropathy type 2 and P0 point mutations: two novel amino acid substitutions (Asp61Gly; Tyr119Cys) and a possible ""hotspot"" on Thr124Met."

PMID 17663472 2007 Late-onset Charcot-Marie-Tooth type 2 disease with hearing impairment associated with a novel Pro105Thr mutation in the MPZ gene.

PMID 11835375 2002 Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.

PMID 10553995 1999 The Roussy-Lévy family: from the original description to the gene.

PMID 11080237 2000 An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val).

PMID 10071056 1999 The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype.

rs201337850 in MRPS22 gene and Movement Disorders

PMID 21189481 2011 Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy.

PMID 28752220 2017 A patient with mitochondrial disorder due to a novel mutation in MRPS22.

PMID 25663021 2015 MRPS22 mutation causes fatal neonatal lactic acidosis with brain and heart abnormalities.

PMID 27159321 2016 Whole exome sequencing in patients with white matter abnormalities.

PMID 17873122 2007 Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation.

rs762093523 in NDUFAF6 gene and Movement Disorders

PMID 26741492 2016 A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.

PMID 18614015 2008 A mitochondrial protein compendium elucidates complex I disease biology.

PMID 27466185 2016 Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6.

rs1553182964 in NFIA gene and Movement Disorders

PMID 20673863 2010 Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome.

PMID 19763616 2010 A novel 1p31.3p32.2 deletion involving the NFIA gene detected by array CGH in a patient with macrocephaly and hypoplasia of the corpus callosum.

PMID 22301465 2012 Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features.

PMID 24098143 2013 Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.

PMID 24657733 2015 Microdeletion of 1p32-p31 involving NFIA in a patient with hypoplastic corpus callosum, ventriculomegaly, seizures and urinary tract defects.

PMID 22542183 2012 De novo gene disruptions in children on the autistic spectrum.

PMID 27081522 2015 Truncating mutation in NFIA causes brain malformation and urinary tract defects.

PMID 24462883 2014 An intragenic deletion of the NFIA gene in a patient with a hypoplastic corpus callosum, craniofacial abnormalities and urinary tract defects.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 19058033 2009 Nuclear factor one transcription factors in CNS development.

PMID 17530927 2007 NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects.

PMID 10518556 1999 Disruption of the murine nuclear factor I-A gene (Nfia) results in perinatal lethality, hydrocephalus, and agenesis of the corpus callosum.

rs768131676 in NGLY1 gene and Movement Disorders

PMID 12711318 2003 Ngly1, a mouse gene encoding a deglycosylating enzyme implicated in proteasomal degradation: expression, genomic organization, and chromosomal mapping.

PMID 22581936 2012 Clinical application of exome sequencing in undiagnosed genetic conditions.

PMID 27388694 2017 Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation.

PMID 24651605 2014 Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway.

PMID 17088551 2006 Structural and biochemical studies of the C-terminal domain of mouse peptide-N-glycanase identify it as a mannose-binding module.

PMID 11562482 2001 Identification of proteins that interact with mammalian peptide:N-glycanase and implicate this hydrolase in the proteasome-dependent pathway for protein degradation.

rs1555349184 in NKX2-1-AS1;SFTA3;NKX2-1 gene and Movement Disorders

PMID 7635972 1995 Congenital human thyroglobulin defect due to low expression of the thyroid-specific transcription factor TTF-1.

PMID 24930029 2014 A novel de novo mutation of the TITF1/NKX2-1 gene causing ataxia, benign hereditary chorea, hypothyroidism and a pituitary mass in a UK family and review of the literature.

PMID 28677170 2017 Inactivating mutations and hypermethylation of the NKX2-1/TTF-1 gene in non-terminal respiratory unit-type lung adenocarcinomas.

PMID 12891678 2003 Benign hereditary chorea: clinical, genetic, and pathological findings.

PMID 22832740 2012 Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene.

PMID 26196025 2015 Benign Hereditary Chorea: An Update.

PMID 24714694 2014 Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum.

PMID 19336474 2009 Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case.

PMID 23911641 2013 NKX2-1 mutation in a family diagnosed with ataxic dyskinetic cerebral palsy.

PMID 21292530 2011 Benign hereditary chorea: an update.

PMID 15289765 2004 Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia caused by a mutation of NKX2-1.

PMID 11854319 2002 Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency.

rs80358252 in NPC1 gene and Movement Disorders

PMID 15459971 2004 A point mutation in the lariat branch point of intron 6 of NPC1 as the cause of abnormal pre-mRNA splicing in Niemann-Pick type C disease.

PMID 22572546 2012 Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update.

PMID 9425535 1997 Evidence for independent feedback control of horizontal and vertical saccades from Niemann-Pick type C disease.

PMID 19744920 2010 The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes.

PMID 12974729 2003 Niemann-Pick disease type C.

PMID 10521297 1999 Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotype.

PMID 20525256 2010 Niemann-Pick disease type C.

rs118161496 in NUBPL gene and Movement Disorders

PMID 23828044 2013 Insights into the pathogenic character of a common NUBPL branch-site mutation associated with mitochondrial disease and complex I deficiency using a yeast model.

PMID 19752196 2009 Human ind1, an iron-sulfur cluster assembly factor for respiratory complex I.

PMID 12805096 2003 Minimum birth prevalence of mitochondrial respiratory chain disorders in children.

PMID 15576045 2004 Clinical and molecular findings in children with complex I deficiency.

PMID 10214753 1999 Respiratory chain complex I deficiency: an underdiagnosed energy generation disorder.

PMID 20818383 2010 High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.

PMID 18497740 2008 The iron-sulphur protein Ind1 is required for effective complex I assembly.

PMID 23553477 2013 NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern.

PMID 19336460 2009 Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease.

PMID 22072591 2012 Next-generation sequencing in molecular diagnosis: NUBPL mutations highlight the challenges of variant detection and interpretation.

PMID 22826544 2012 Massive and exclusive pontocerebellar damage in mitochondrial disease and NUBPL mutations.

PMID 21766414 2011 The molecular basis of human complex I deficiency.

PMID 22499348 2012 Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing.

PMID 22972949 2012 Complex I deficiency: clinical features, biochemistry and molecular genetics.

rs1555907034 in OFD1 gene and Movement Disorders

PMID 18546297 2008 Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients.

PMID 22353940 2012 Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations.

PMID 19800048 2009 OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.

PMID 22619378 2012 Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23).

PMID 19396822 2009 Are the oral-facial-digital syndromes ciliopathies?

PMID 23033313 2013 Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.

PMID 27081566 2016 Exome sequencing identifies a mutation in OFD1 in a male with Joubert syndrome, orofaciodigital spectrum anomalies and complex polydactyly.

PMID 24884629 2014 CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study.

PMID 19876934 2009 The molecular basis of oral-facial-digital syndrome, type 1.

PMID 16311594 2006 Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification.

PMID 15466260 2004 OFD1 is a centrosomal/basal body protein expressed during mesenchymal-epithelial transition in human nephrogenesis.

PMID 10892847 2000 Evidence for a new locus for X-linked retinitis pigmentosa (RP23).

PMID 16783569 2006 A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome.

PMID 25238977 2014 Simpson-Golabi-Behmel syndrome types I and II.

rs80356529 in OPA1 gene and Movement Disorders

PMID 27150940 2016 Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1.

PMID 26385429 2015 Genotype-phenotype heterogeneity of ganglion cell and inner plexiform layer deficit in autosomal-dominant optic atrophy.

PMID 27656661 2016 A multiple sclerosis-like disorder in patients with OPA1 mutations.

PMID 23387428 2013 Novel OPA1 missense mutation in a family with optic atrophy and severe widespread neurological disorder.

PMID 26561570 2016 Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation.

PMID 28841713 2017 Processing of OPA1 with a novel N-terminal mutation in patients with autosomal dominant optic atrophy: Escape from nonsense-mediated decay.

PMID 16158427 2005 Optic atrophy and sensorineural hearing loss in a family caused by an R445H OPA1 mutation.

PMID 20157015 2010 Multi-system neurological disease is common in patients with OPA1 mutations.

PMID 22857269 2012 Dominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%.

PMID 23384603 2013 Sensorineural hearing loss in OPA1-linked disorders.

PMID 14961560 2003 Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy.

PMID 12566046 2003 A novel mutation in the OPA1 gene in a Japanese patient with optic atrophy.

PMID 14644237 2003 The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene.

rs1456336365 in PDE6A gene and Movement Disorders

PMID 26496393 2015 Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing.

PMID 26321862 2015 Splice-site mutations identified in PDE6A responsible for retinitis pigmentosa in consanguineous Pakistani families.

rs863224148 in PDHA1 gene and Movement Disorders

PMID 27144126 2016 Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing.

PMID 26944031 2016 Detection and Quantification of Mosaic Mutations in Disease Genes by Next-Generation Sequencing.

PMID 10679936 2000 Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency.

PMID 26008863 2015 Pyruvate dehydrogenase deficiency presenting as isolated paroxysmal exercise induced dystonia successfully reversed with thiamine supplementation. Case report and mini-review.

PMID 15384102 2004 Deficiency of pyruvate dehydrogenase caused by novel and known mutations in the E1alpha subunit.

PMID 23021068 2012 Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: lack of correlation with genotype.

PMID 7887408 1995 Pyruvate dehydrogenase E1 alpha deficiency: males and females differ yet again.

PMID 25526709 2015 The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders.

PMID 21914562 2011 Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein.

PMID 27896109 2014 Somatic mosaicism for a novel PDHA1 mutation in a male with severe pyruvate dehydrogenase complex deficiency.

rs1555682938 in PIGN gene and Movement Disorders

PMID 18635593 2008 Biosynthesis, remodelling and functions of mammalian GPI-anchored proteins: recent progress.

PMID 10574991 1999 Pig-n, a mammalian homologue of yeast Mcd4p, is involved in transferring phosphoethanolamine to the first mannose of the glycosylphosphatidylinositol.

PMID 26419326 2016 A novel PIGN mutation and prenatal diagnosis of inherited glycosylphosphatidylinositol deficiency.

PMID 25920937 2015 The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: report and review.

PMID 27038415 2016 Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families.

PMID 26879448 2016 Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes.

PMID 21493957 2011 Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN.

PMID 24253414 2014 PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy.

PMID 24852103 2014 Exome sequencing identifies a recessive PIGN splice site mutation as a cause of syndromic congenital diaphragmatic hernia.

PMID 26394714 2016 Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy.

PMID 26364997 2016 A PIGN mutation responsible for multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) in an Israeli-Arab family.

rs28936415 in PMM2 gene and Movement Disorders

PMID 11343337 2001 Neurological presentation of a congenital disorder of glycosylation CDG-Ia: implications for diagnosis and genetic counseling.

PMID 9140401 1997 Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome).

PMID 28373276 2017 Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.

PMID 24498599 2013 Biochemical phenotype of a common disease-causing mutation and a possible therapeutic approach for the phosphomannomutase 2-associated disorder of glycosylation.

PMID 10854097 2000 Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia).

PMID 26488408 2015 Heterodimerization of Two Pathological Mutants Enhances the Activity of Human Phosphomannomutase2.

PMID 10602363 1999 Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli.

PMID 26014514 2015 The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein.

PMID 10527672 1999 Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS type Ia).

PMID 15844218 2005 A new insight into PMM2 mutations in the French population.

PMID 28425223 2017 Three families with mild PMM2-CDG and normal cognitive development.

PMID 26805780 2016 Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation.

rs80338708 in PMM2;LOC100130283 gene and Movement Disorders

PMID 28425223 2017 Three families with mild PMM2-CDG and normal cognitive development.

PMID 28373276 2017 Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.

PMID 26014514 2015 The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein.

PMID 26488408 2015 Heterodimerization of Two Pathological Mutants Enhances the Activity of Human Phosphomannomutase2.

PMID 26805780 2016 Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation.

PMID 24498599 2013 Biochemical phenotype of a common disease-causing mutation and a possible therapeutic approach for the phosphomannomutase 2-associated disorder of glycosylation.

PMID 10527672 1999 Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS type Ia).

PMID 10602363 1999 Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli.

PMID 15844218 2005 A new insight into PMM2 mutations in the French population.

PMID 9140401 1997 Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome).

PMID 10854097 2000 Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia).

PMID 11343337 2001 Neurological presentation of a congenital disorder of glycosylation CDG-Ia: implications for diagnosis and genetic counseling.

rs963172852 in PMPCA gene and Movement Disorders

PMID 11020385 2000 Two-step processing of human frataxin by mitochondrial processing peptidase. Precursor and intermediate forms are cleaved at different rates.

PMID 22495024 2013 Processing peptidases in mitochondria and chloroplasts.

PMID 25808372 2015 PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia.

PMID 9700204 1998 Maturation of wild-type and mutated frataxin by the mitochondrial processing peptidase.

PMID 27148589 2016 Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-α protein (PMPCA) cause a severe mitochondrial disease.

PMID 26657514 2016 Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA.

rs786203983 in PNKP gene and Movement Disorders

PMID 7165045 1982 Interface between psychoanalysis and family therapy.

PMID 27232581 2016 Microcephalic primordial dwarfism in an Emirati patient with PNKP mutation.

PMID 27165045 2017 PNKP Mutations Identified by Whole-Exome Sequencing in a Norwegian Patient with Sporadic Ataxia and Edema.

PMID 24965255 2014 Causative novel PNKP mutations and concomitant PCDH15 mutations in a patient with microcephaly with early-onset seizures and developmental delay syndrome and hearing loss.

PMID 23224214 2013 Progressive cerebellar atrophy and polyneuropathy: expanding the spectrum of PNKP mutations.

PMID 25728773 2015 Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4.

PMID 20118933 2010 Mutations in PNKP cause microcephaly, seizures and defects in DNA repair.

PMID 10446192 1999 Molecular cloning of the human gene, PNKP, encoding a polynucleotide kinase 3'-phosphatase and evidence for its role in repair of DNA strand breaks caused by oxidative damage.

rs1553212545 in POGZ gene and Movement Disorders

PMID 25694107 2015 A case of autism spectrum disorder arising from a de novo missense mutation in POGZ.

PMID 28480548 2017 Expanding the phenotypic spectrum of truncating POGZ mutations: Association with CNS malformations, skeletal abnormalities, and distinctive facial dysmorphism.

PMID 26739615 2016 POGZ truncating alleles cause syndromic intellectual disability.

PMID 26942287 2016 Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.

PMID 22495311 2012 Patterns and rates of exonic de novo mutations in autism spectrum disorders.

PMID 27148570 2015 De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly.

PMID 23375656 2013 Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.

PMID 9862965 1999 Pogo transposase contains a putative helix-turn-helix DNA binding domain that recognises a 12 bp sequence within the terminal inverted repeats.

PMID 24896178 2014 Genome sequencing identifies major causes of severe intellectual disability.

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

PMID 24463507 2014 De novo mutations in schizophrenia implicate synaptic networks.

PMID 22542183 2012 De novo gene disruptions in children on the autistic spectrum.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

rs74315402 in PRNP gene and Movement Disorders

PMID 9669700 1998 The prion diseases.

PMID 7902972 1993 A missense mutation at codon 105 with codon 129 polymorphism of the prion protein gene in a new variant of Gerstmann-Sträussler-Scheinker disease.

PMID 20216075 2010 The genetics of prion diseases.

PMID 15883322 2005 High incidence of genetic human transmissible spongiform encephalopathies in Italy.

PMID 8250529 1993 A new inherited prion disease (PrP-P105L mutation) showing spastic paraparesis.

PMID 7699395 1994 A variant of Gerstmann-Sträussler-Scheinker disease carrying codon 105 mutation with codon 129 polymorphism of the prion protein gene: a clinicopathological study.

PMID 16831973 2006 Childhood onset in familial prion disease with a novel mutation in the PRNP gene.

PMID 21911696 2011 Clinical characterization of a kindred with a novel 12-octapeptide repeat insertion in the prion protein gene.

PMID 28987186 2017 Prion diseases.

PMID 16769939 2006 Early clinical signs and imaging findings in Gerstmann-Sträussler-Scheinker syndrome (Pro102Leu).

PMID 16391566 2006 Prion disease genetics.

PMID 15824374 2005 PRNP H187R mutation associated with neuropsychiatric disorders in childhood and dementia.

PMID 28778873 2018 Genetic PrP Prion Diseases.

PMID 10408557 1999 An inherited prion disease with a PrP P105L mutation: clinicopathologic and PrP heterogeneity.

PMID 23518043 2013 Genetics of prion diseases.

PMID 11709001 2001 A new PRNP mutation (G131V) associated with Gerstmann-Sträussler-Scheinker disease.

PMID 12451207 2002 A patient with dementia with Lewy bodies and codon 232 mutation of PRNP.

PMID 10541874 1999 Variant Gerstmann-Sträussler syndrome with the P105L prion gene mutation: an unusual case with nigral degeneration and widespread neurofibrillary tangles.

PMID 10963679 2000 Genetic influence on the structural variations of the abnormal prion protein.

PMID 12420099 2002 Mutations of the prion protein gene phenotypic spectrum.

rs121918103 in PSAP gene and Movement Disorders

PMID 26831127 2016 Clinical, biochemical and molecular characterization of prosaposin deficiency.

PMID 20484222 2010 Saposin C mutations in Gaucher disease patients resulting in lysosomal lipid accumulation, saposin C deficiency, but normal prosaposin processing and sorting.

PMID 15773042 2005 A mutation in the saposin A coding region of the prosaposin gene in an infant presenting as Krabbe disease: first report of saposin A deficiency in humans.

PMID 19955343 2009 Sphingolipid activator protein B deficiency: report of 9 Saudi patients and review of the literature.

rs1555912049 in PTCHD1 gene and Movement Disorders

PMID 25782667 2015 Contribution of common and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability.

PMID 25131214 2015 Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder.

PMID 20844286 2010 Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability.

PMID 23871722 2013 XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing.

PMID 21091464 2011 Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism.

rs886041877 in PTEN gene and Movement Disorders

PMID 17392703 2007 Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity.

PMID 21194675 2011 A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands.

PMID 24136893 2013 Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria.

PMID 23695273 2014 Biochemical screening and PTEN mutation analysis in individuals with autism spectrum disorders and macrocephaly.

PMID 25022750 2014 Hamartomatous polyposis syndromes: a review.

PMID 19668082 2009 PTEN hamartoma tumor syndrome: an overview.

PMID 25132236 2015 Cowden syndrome: recognizing and managing a not-so-rare hereditary cancer syndrome.

PMID 22252256 2012 Lifetime cancer risks in individuals with germline PTEN mutations.

PMID 19265751 2009 The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly.

PMID 17427195 2007 Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly.

PMID 15805158 2005 Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations.

PMID 11238682 2001 Male breast cancer in Cowden syndrome patients with germline PTEN mutations.

PMID 12844284 2003 Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway.

PMID 17286265 2007 Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly.

rs1554129039 in PURA gene and Movement Disorders

PMID 19182532 2009 Multiple roles for Puralpha in cellular and viral regulation.

PMID 19854944 2010 The NCBI BioSystems database.

PMID 18266931 2008 Proteomic analysis of nuclear factors binding to an intronic enhancer in the myelin proteolipid protein gene.

PMID 25439098 2014 Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.

PMID 21594995 2011 A new microdeletion syndrome of 5q31.3 characterized by severe developmental delays, distinctive facial features, and delayed myelination.

PMID 23950017 2013 5q31.3 Microdeletion syndrome: clinical and molecular characterization of two further cases.

PMID 17698009 2007 Pur alpha binds to rCGG repeats and modulates repeat-mediated neurodegeneration in a Drosophila model of fragile X tremor/ataxia syndrome.

PMID 22711443 2012 Clinical phenotype and candidate genes for the 5q31.3 microdeletion syndrome.

PMID 25342064 2014 Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability.

PMID 27148565 2015 De novo mutations in PURA are associated with hypotonia and developmental delay.

PMID 26582469 2015 Long-term follow-up of a patient with 5q31.3 microdeletion syndrome and the smallest de novo 5q31.2q31.3 deletion involving PURA.

PMID 1706516 1991 Dendritic location of neural BC1 RNA.

PMID 29150892 2018 Expanding the neurodevelopmental phenotype of PURA syndrome.

PMID 28164378 2017 Patient with a novel purine-rich element binding protein A mutation.

PMID 28486374 2017 Premature Thelarche and the PURA Syndrome.

PMID 29097605 2018 PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.

PMID 12972605 2003 Puralpha is essential for postnatal brain development and developmentally coupled cellular proliferation as revealed by genetic inactivation in the mouse.

rs397518483 in RARB gene and Movement Disorders

PMID 27120018 2016 Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment.

PMID 25457163 2015 Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects.

PMID 22318625 2012 Retinoic acid signalling during development.

PMID 17506106 2007 The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew-Wood syndrome): report of eight cases including a living child and further evidence for autosomal recessive inheritance.

PMID 24075189 2013 Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia.

rs1555902810 in RBFOX2 gene and Movement Disorders

PMID 27485310 2016 Rbfox2 function in RNA metabolism is impaired in hypoplastic left heart syndrome patient hearts.

PMID 25205790 2014 Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data.

PMID 25753418 2015 Repression of the Central Splicing Regulator RBFox2 Is Functionally Linked to Pressure Overload-Induced Heart Failure.

PMID 27211866 2016 RBFox2 Binds Nascent RNA to Globally Regulate Polycomb Complex 2 Targeting in Mammalian Genomes.

PMID 16260614 2005 Homologues of the Caenorhabditis elegans Fox-1 protein are neuronal splicing regulators in mammals.

PMID 26785492 2015 De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies.

rs1554059320 in RICTOR gene and Movement Disorders

PMID 15284851 2004 Nonsense-mediated decay approaches the clinic.

PMID 25348405 2015 UniProt: a hub for protein information.

PMID 8751724 1996 Evidence from transgenic mice that glucokinase is rate limiting for glucose utilization in the liver.

PMID 22500797 2012 mTOR signaling in growth control and disease.

PMID 16962829 2006 Multiallelic disruption of the rictor gene in mice reveals that mTOR complex 2 is essential for fetal growth and viability.

PMID 17141160 2006 Ablation in mice of the mTORC components raptor, rictor, or mLST8 reveals that mTORC2 is required for signaling to Akt-FOXO and PKCalpha, but not S6K1.

PMID 23049074 2013 Deletion of Rictor in neural progenitor cells reveals contributions of mTORC2 signaling to tuberous sclerosis complex.

PMID 22521878 2012 Hepatic mTORC2 activates glycolysis and lipogenesis through Akt, glucokinase, and SREBP1c.

PMID 2006 1976 Nutrition education in the medical school curriculum: a proposal for action: a curriculum design.

PMID 11042116 2000 Activation of protein kinase B/cAkt in hepatocytes is sufficient for the induction of expression of the gene encoding glucokinase.

PMID 19344873 2009 DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.

rs1555801872 in RYR1 gene and Movement Disorders

PMID 16917943 2006 Mutations in RYR1 in malignant hyperthermia and central core disease.

PMID 20583297 2010 Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion.

PMID 8661021 1996 The structural organization of the human skeletal muscle ryanodine receptor (RYR1) gene.

PMID 16380615 2005 Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene.

PMID 18765655 2008 King-denborough syndrome caused by a novel mutation in the ryanodine receptor gene.

PMID 9199552 1997 Malignant-hyperthermia susceptibility is associated with a mutation of the alpha 1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle.

PMID 20839240 2010 RYR1 mutations are a common cause of congenital myopathies with central nuclei.

PMID 23553484 2013 Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum.

PMID 23919265 2013 Genotype-phenotype correlations in recessive RYR1-related myopathies.

PMID 4149045 1973 Anesthetic-induced malignant hyperpyrexia in children.

PMID 16163667 2005 Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility.

PMID 23394784 2013 Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom.

rs1555254256 in SACS gene and Movement Disorders

PMID 11788093 2001 Rapid detection of the sacsin mutations causing autosomal recessive spastic ataxia of Charlevoix-Saguenay.

PMID 23497566 2013 Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum.

PMID 23280630 2013 Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture.

PMID 8472930 1993 Genetic epidemiology of autosomal recessive spastic ataxia of Charlevoix-Saguenay in northeastern Quebec.

PMID 22751902 2012 Prominent sensorimotor neuropathy due to SACS mutations revealed by whole-exome sequencing.

PMID 10655055 2000 ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF.

PMID 27871429 2016 Novel SACS mutations associated with intellectual disability, epilepsy and widespread supratentorial abnormalities.

PMID 16007637 2005 Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia.

PMID 12873855 2003 Phenotypic features and genetic findings in sacsin-related autosomal recessive ataxia in Tunisia.

PMID 14718708 2004 Identification of a SACS gene missense mutation in ARSACS.

PMID 25401298 2015 A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.

PMID 26288984 2015 New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.

PMID 17846221 2007 Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a report of MR imaging in 5 patients.

PMID 19208651 2009 The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1.

PMID 16961075 2006 Autosomal recessive spastic ataxia of Charlevoix-Saguenay.

PMID 22441213 2012 Cerebellar cognitive affective syndrome and autosomal recessive spastic ataxia of charlevoix-saguenay: a report of two male sibs.

PMID 15985586 2005 A phenotype without spasticity in sacsin-related ataxia.

PMID 21450511 2011 Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview.

PMID 18465152 2008 ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia.

PMID 17683082 2008 Neurophysiological study in a Spanish family with recessive spastic ataxia of Charlevoix-Saguenay.

PMID 20876471 2010 Mutations in SACS cause atypical and late-onset forms of ARSACS.

rs1057521083 in SATB2 gene and Movement Disorders

PMID 17377962 2007 Heterozygous nonsense mutation SATB2 associated with cleft palate, osteoporosis, and cognitive defects.

PMID 27409069 2016 Increased bone turnover, osteoporosis, progressive tibial bowing, fractures, and scoliosis in a patient with a final-exon SATB2 frameshift mutation.

PMID 24363063 2014 Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence.

PMID 19576302 2010 4.5 Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate.

PMID 23925499 2013 Disorders with similar clinical phenotypes reveal underlying genetic interaction: SATB2 acts as an activator of the UPF3B gene.

PMID 25885067 2015 Further supporting evidence for the SATB2-associated syndrome found through whole exome sequencing.

PMID 28151491 2017 Clinical and molecular consequences of disease-associated de novo mutations in SATB2.

PMID 28211976 2017 A de novo SATB2 mutation in monozygotic twins with cleft palate, dental anomalies, and developmental delay.

PMID 16751105 2006 SATB2 is a multifunctional determinant of craniofacial patterning and osteoblast differentiation.

PMID 24896178 2014 Genome sequencing identifies major causes of severe intellectual disability.

PMID 12915443 2003 Identification of SATB2 as the cleft palate gene on 2q32-q33.

PMID 16960803 2006 Satb2 haploinsufficiency phenocopies 2q32-q33 deletions, whereas loss suggests a fundamental role in the coordination of jaw development.

PMID 27668656 2016 TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons.

PMID 2918541 1989 Interstitial deletion of the long arm of chromosome 2 with normal levels of isocitrate dehydrogenase.

PMID 10417281 1999 A locus for isolated cleft palate, located on human chromosome 2q32.

PMID 28139846 2017 Genotype and phenotype in 12 additional individuals with SATB2-associated syndrome.

PMID 24301056 2014 Further delineation of the SATB2 phenotype.

PMID 23849776 2013 Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.

PMID 19668335 2009 Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome.

PMID 28170089 2017 DEPDC5 mutations in familial and sporadic focal epilepsy.

PMID 25106414 2014 The clinical significance of small copy number variants in neurodevelopmental disorders.

rs1553540213 in SCN1A;LOC102724058;SCN1A-AS1 gene and Movement Disorders

PMID 20879882 2010 Timing of de novo mutagenesis--a twin study of sodium-channel mutations.

PMID 21269283 2011 Cognitive development in Dravet syndrome: a retrospective, multicenter study of 26 patients.

PMID 21463290 2011 Dravet syndrome and parent associations: the IDEA League experience with comorbid conditions, mortality, management, adaptation, and grief.

PMID 22409937 2012 Progressive gait deterioration in adolescents with Dravet syndrome.

PMID 19400878 2009 SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis.

PMID 24097157 2014 Structure and function of voltage-gated sodium channels at atomic resolution.

PMID 21248271 2011 Genotype-phenotype associations in SCN1A-related epilepsies.

PMID 18413471 2008 Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified.

PMID 15508915 2005 Severe myoclonic epilepsy in infancy: Dravet syndrome.

PMID 22719002 2012 Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome.

PMID 10742094 2000 Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.

PMID 18930999 2009 Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients.

PMID 11359211 2001 De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy.

PMID 16430863 2006 Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy.

PMID 15880351 2005 SCN1A mutations and epilepsy.

PMID 17347258 2007 The spectrum of SCN1A-related infantile epileptic encephalopathies.

PMID 17561957 2007 Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.

PMID 9126059 1997 Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes.

PMID 24836964 2014 Dravet syndrome--from epileptic encephalopathy to channelopathy.

rs1555230924 in SCN8A gene and Movement Disorders

PMID 26252990 2016 Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach.

PMID 10745221 2000 Developmental and regional expression of sodium channel isoform NaCh6 in the rat central nervous system.

PMID 26029160 2015 Recurrent and Non-Recurrent Mutations of SCN8A in Epileptic Encephalopathy.

PMID 27270488 2016 SCN8A encephalopathy: Research progress and prospects.

PMID 25785782 2015 SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability.

PMID 20196795 2010 Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009.

PMID 9828131 1998 Exon organization, coding sequence, physical mapping, and polymorphic intragenic markers for the human neuronal sodium channel gene SCN8A.

PMID 26220391 2015 Complex SCN8A DNA-abnormalities in an individual with therapy resistant absence epilepsy.

PMID 26677014 2016 Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.

PMID 25239001 2014 Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy.

PMID 22365152 2012 De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP.

PMID 26993267 2016 Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

PMID 26900580 2016 Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy.

PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

PMID 16236810 2006 Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation.

PMID 25725044 2015 De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy.

PMID 9295353 1997 Alternative splicing of the sodium channel SCN8A predicts a truncated two-domain protein in fetal brain and non-neuronal cells.

PMID 7751906 1995 A novel, abundant sodium channel expressed in neurons and glia.

PMID 28702509 2017 Loss-of-function variants of SCN8A in intellectual disability without seizures.

PMID 24888894 2014 Early onset epileptic encephalopathy caused by de novo SCN8A mutations.

PMID 23708187 2013 Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

PMID 24352161 2014 De novo SCN8A mutation identified by whole-exome sequencing in a boy with neonatal epileptic encephalopathy, multiple congenital anomalies, and movement disorders.

PMID 24874546 2014 A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy.

PMID 25914188 2015 Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome.

PMID 25799905 2015 Early-onset movement disorder and epileptic encephalopathy due to de novo dominant SCN8A mutation.

PMID 23020937 2012 Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.

rs28929474 in SERPINA1 gene and Movement Disorders

PMID 26310624 2015 Impaired hepcidin expression in alpha-1-antitrypsin deficiency associated with iron overload and progressive liver disease.

PMID 9041988 1997 Baseline characteristics of enrollees in the National Heart, Lung and Blood Institute Registry of alpha 1-antitrypsin deficiency. Alpha 1-Antitrypsin Deficiency Registry Study Group.

PMID 15115878 2004 Alpha 1-antitrypsin deficiency. 3: Clinical manifestations and natural history.

PMID 6306478 1983 alpha 1-antitrypsin deficiency detection by direct analysis of the mutation in the gene.

PMID 18682522 2008 Clinical course and prognosis of never-smokers with severe alpha-1-antitrypsin deficiency (PiZZ).

PMID 23632999 2013 α1-Antitrypsin phenotypes and associated serum protein concentrations in a large clinical population.

rs121434376 in SETX gene and Movement Disorders

PMID 19696032 2009 Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients.

PMID 15732101 2005 Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy.

PMID 14770181 2004 Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.

PMID 15106121 2004 DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4).

rs1555349214 in SFTA3;NKX2-1;NKX2-1-AS1 gene and Movement Disorders

PMID 24714694 2014 Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum.

PMID 23911641 2013 NKX2-1 mutation in a family diagnosed with ataxic dyskinetic cerebral palsy.

PMID 24930029 2014 A novel de novo mutation of the TITF1/NKX2-1 gene causing ataxia, benign hereditary chorea, hypothyroidism and a pituitary mass in a UK family and review of the literature.

PMID 28677170 2017 Inactivating mutations and hypermethylation of the NKX2-1/TTF-1 gene in non-terminal respiratory unit-type lung adenocarcinomas.

PMID 26196025 2015 Benign Hereditary Chorea: An Update.

PMID 7635972 1995 Congenital human thyroglobulin defect due to low expression of the thyroid-specific transcription factor TTF-1.

PMID 22832740 2012 Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene.

PMID 21292530 2011 Benign hereditary chorea: an update.

PMID 12891678 2003 Benign hereditary chorea: clinical, genetic, and pathological findings.

PMID 19336474 2009 Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case.

PMID 11854319 2002 Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency.

PMID 15289765 2004 Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia caused by a mutation of NKX2-1.

rs104894635 in SGSH gene and Movement Disorders

PMID 28921412 2018 How close are we to therapies for Sanfilippo disease?

PMID 27896117 2014 Cardiac disease as the presenting feature of mucopolysaccharidosis type IIIA: A case report.

PMID 23385295 2013 Behavioural phenotypes of the mucopolysaccharide disorders: a systematic literature review of cognitive, motor, social, linguistic and behavioural presentation in the MPS disorders.

PMID 21061399 2010 Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations.

PMID 17938166 2007 Scoring evaluation of the natural course of mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A).

PMID 25851924 2015 Sanfilippo syndrome: Overall review.

PMID 21671382 2011 Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome.

PMID 12687673 2003 Late-Onset visceral presentation with cardiomyopathy and without neurological symptoms of adult Sanfilippo A syndrome.

rs80338933 in SH3TC2 gene and Movement Disorders

PMID 9120441 1997 Epidemiology of peripheral neuropathy.

PMID 21291453 2011 High frequency of SH3TC2 mutations in Czech HMSN I patients.

PMID 20220177 2010 Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.

PMID 19744956 2009 Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway.

rs104893915 in SLC26A2 gene and Movement Disorders

PMID 8571951 1996 Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias.

PMID 11241838 2001 Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance.

PMID 10465113 1999 Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation.

PMID 15294877 2004 Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells.

PMID 12525546 2003 Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W.

PMID 21077202 2010 Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family.

rs1413339367 in SLC2A1 gene and Movement Disorders

PMID 26304067 2015 Mutational and functional analysis of Glucose transporter I deficiency syndrome.

PMID 26336901 2016 Glut1 deficiency syndrome: Absence epilepsy and La Soupe du Jour.

PMID 23443458 2013 Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS).

PMID 21555602 2011 Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy.

PMID 24963779 2014 Paroxysmal dyskinesias revisited: a review of 500 genetically proven cases and a new classification.

PMID 26598494 2015 The clinical and genetic heterogeneity of paroxysmal dyskinesias.

PMID 26193382 2015 From splitting GLUT1 deficiency syndromes to overlapping phenotypes.

PMID 1714544 1991 Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay.

PMID 19798636 2009 Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1.

PMID 22492876 2012 An infant with pseudohyperkalemia, hemolysis, and seizures: cation-leaky GLUT1-deficiency syndrome due to a SLC2A1 mutation.

PMID 26537434 2015 The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome.

PMID 21791420 2011 Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome.

PMID 20129935 2010 Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.

PMID 18577546 2008 Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.

PMID 12752470 2003 Seizure characterization and electroencephalographic features in Glut-1 deficiency syndrome.

PMID 21832227 2011 Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect.

PMID 23306390 2013 The role of SLC2A1 in early onset and childhood absence epilepsies.

PMID 20687207 2010 Glut1 deficiency: inheritance pattern determined by haploinsufficiency.

PMID 10766892 2000 A new family with paroxysmal exercise induced dystonia and migraine: a clinical and genetic study.

PMID 23280796 2012 Glucose transporter 1 deficiency in the idiopathic generalized epilepsies.

PMID 20221955 2009 Autosomal recessive inheritance of GLUT1 deficiency syndrome.

PMID 25487684 2015 Nationwide survey of glucose transporter-1 deficiency syndrome (GLUT-1DS) in Japan.

PMID 22976442 2012 Unusual sensitivity to steroid treatment in intractable childhood epilepsy suggests GLUT1 deficiency syndrome.

rs148234606 in SLC52A2 gene and Movement Disorders

PMID 24253200 2014 Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.

PMID 23107375 2012 The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives.

PMID 27702554 2016 SLC52A2 [p.P141T] and SLC52A3 [p.N21S] causing Brown-Vialetto-Van Laere Syndrome in an Indian patient: First genetically proven case with mutations in two riboflavin transporters.

rs1554629007 in SMARCA2 gene and Movement Disorders

PMID 25169058 2014 Phenotype and genotype in Nicolaides-Baraitser syndrome.

PMID 25249037 2015 Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability.

PMID 19606471 2009 Nicolaides-Baraitser syndrome: Delineation of the phenotype.

PMID 8287185 1993 An unusual syndrome with mental retardation and sparse hair.

PMID 14564210 2003 Nicolaides-Baraitser syndrome: confirmatory report of a syndrome with sparse hair, mental retardation, and short stature and metacarpals.

PMID 22366787 2012 Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.

rs387906702 in SMC1A gene and Movement Disorders

PMID 28548707 2017 Phenotypes and genotypes in individuals with SMC1A variants.

PMID 19842212 2010 Spectrum and consequences of SMC1A mutations: the unexpected involvement of a core component of cohesin in human disease.

PMID 26752331 2016 De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum.

PMID 26386245 2015 Novel SMC1A frameshift mutations in children with developmental delay and epilepsy.

PMID 24896178 2014 Genome sequencing identifies major causes of severe intellectual disability.

PMID 23106691 2012 Proteomic profile identifies dysregulated pathways in Cornelia de Lange syndrome cells with distinct mutations in SMC1A and SMC3 genes.

PMID 28102598 2017 Novel findings of left ventricular non-compaction cardiomyopathy, microform cleft lip and poor vision in patient with SMC1A-associated Cornelia de Lange syndrome.

PMID 20635401 2010 Hypertrophic cardiomyopathy in a girl with Cornelia de Lange syndrome due to mutation in SMC1A.

PMID 25537356 2015 Clinical utility gene card for: Cornelia de Lange syndrome.

PMID 26358754 2015 Early-onset encephalopathy with epilepsy associated with a novel splice site mutation in SMC1A.

PMID 16604071 2006 X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.

PMID 22106055 2012 In-frame multi-exon deletion of SMC1A in a severely affected female with Cornelia de Lange Syndrome.

PMID 26354354 2015 Novel pathogenic variant (c.3178G>A) in the SMC1A gene in a family with Cornelia de Lange syndrome identified by exome sequencing.

PMID 17221863 2007 Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations.

PMID 17273969 2007 Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation.

PMID 7757074 1995 The human SB1.8 gene (DXS423E) encodes a putative chromosome segregation protein conserved in lower eukaryotes and prokaryotes.

rs587781196 in SNHG14;UBE3A gene and Movement Disorders

PMID 15263005 2004 Biochemical analysis of Angelman syndrome-associated mutations in the E3 ubiquitin ligase E6-associated protein.

PMID 25212744 2014 Mutation Update for UBE3A variants in Angelman syndrome.

PMID 17765640 2008 Are there distinctive sleep problems in Angelman syndrome?

PMID 17940072 2008 The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology.

PMID 26219744 2015 The neurobehavioral and molecular phenotype of Angelman Syndrome.

PMID 22670133 2012 Molecular and Clinical Aspects of Angelman Syndrome.

PMID 25884337 2015 15q11.2 Duplication Encompassing Only the UBE3A Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes.

PMID 8988171 1997 UBE3A/E6-AP mutations cause Angelman syndrome.

PMID 2309781 1990 Maternal origin of 15q11-13 deletions in Angelman syndrome suggests a role for genomic imprinting.

PMID 16470747 2006 Angelman syndrome 2005: updated consensus for diagnostic criteria.

PMID 24876791 2014 Angelman syndrome: review of clinical and molecular aspects.

PMID 19213023 2009 Novel UBE3A mutations causing Angelman syndrome: different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions.

rs1382415023 in SON gene and Movement Disorders

PMID 9185665 1997 Molecular cloning of Fyn-associated molecules in the mouse central nervous system.

PMID 3054499 1988 [Decoding of the primary structure of the son3 region in human genome: identification of a new protein with unusual structure and homology with DNA-binding proteins].

PMID 22193954 2011 Son maintains accurate splicing for a subset of human pre-mRNAs.

PMID 19961433 2010 Histone deacetylase 6 (HDAC6) is an independent deacetylase for alpha-tubulin.

PMID 23001566 2012 An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation.

PMID 16033648 2005 A genome-wide in situ hybridization map of RNA-binding proteins reveals anatomically restricted expression in the developing mouse brain.

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

PMID 22948023 2013 Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria.

PMID 25782155 2015 Accurate splicing of HDAC6 pre-mRNA requires SON.

PMID 23603762 2013 Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.

PMID 20976243 2010 Characterising and predicting haploinsufficiency in the human genome.

PMID 11306577 2001 Transcription repression of human hepatitis B virus genes by negative regulatory element-binding protein/SON.

PMID 23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.

PMID 12606581 2003 HDAC-6 interacts with and deacetylates tubulin and microtubules in vivo.

PMID 23424103 2013 Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia.

PMID 25590979 2015 Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.

PMID 24013217 2013 SON connects the splicing-regulatory network with pluripotency in human embryonic stem cells.

PMID 23595291 2013 Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene.

PMID 21504830 2011 SON controls cell-cycle progression by coordinated regulation of RNA splicing.

PMID 20053686 2010 Son is essential for nuclear speckle organization and cell cycle progression.

PMID 1944255 1991 [Identification of a protein product of a novel human gene SON and the biological effect upon administering a changed form of this gene into mammalian cells].

PMID 23416452 2013 mRNA expression, splicing and editing in the embryonic and adult mouse cerebral cortex.

PMID 24896178 2014 Genome sequencing identifies major causes of severe intellectual disability.

PMID 10509013 1999 A selection system for human apoptosis inhibitors using yeast.

PMID 10950926 2000 Organization and conservation of the GART/SON/DONSON locus in mouse and human genomes.

PMID 27545680 2016 De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.

PMID 27545676 2016 De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive.

PMID 20581448 2010 SON is a spliceosome-associated factor required for mitotic progression.

rs1553317028 in SPAST gene and Movement Disorders

PMID 26374131 2016 Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing.

PMID 26671083 2015 Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients.

PMID 25315759 2014 A complex form of hereditary spastic paraplegia in three siblings due to somatic mosaicism for a novel SPAST mutation in the mother.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 15326248 2004 Infantile hereditary spastic paraparesis due to codominant mutations in the spastin gene.

PMID 23438842 2014 Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia.

PMID 19453301 2009 Direct evidence for axonal transport defects in a novel mouse model of mutant spastin-induced hereditary spastic paraplegia (HSP) and human HSP patients.

PMID 11309678 2001 Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia.

PMID 14681884 2003 Hereditary spastic paraparesis: disrupted intracellular transport associated with spastin mutation.

PMID 26208798 2015 Mutational spectrum of the SPAST and ATL1 genes in Korean patients with hereditary spastic paraplegia.

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PMID 20562464 2010 Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations.

PMID 10699187 2000 Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia.

PMID 17101632 2006 A mutation of spastin is responsible for swellings and impairment of transport in a region of axon characterized by changes in microtubule composition.

PMID 23122959 2012 Normal spastin gene dosage is specifically required for axon regeneration.

PMID 25065914 2014 The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles.

PMID 18190593 2008 Compound heterozygosity in the SPG4 gene causes hereditary spastic paraplegia.

PMID 17100993 2006 Spastin gene mutations in Bulgarian patients with hereditary spastic paraplegia.

PMID 10610178 1999 Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia.

rs149474131 in SPG7 gene and Movement Disorders

PMID 22571692 2013 SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V.

PMID 26626314 2016 SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.

PMID 22554690 2012 Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance.

PMID 26374131 2016 Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing.

PMID 27084228 2016 Genetic background of the hereditary spastic paraplegia phenotypes in Hungary - An analysis of 58 probands.

PMID 28608987 2017 SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type.

PMID 26260707 2015 Identification of a novel homozygous SPG7 mutation by whole exome sequencing in a Greek family with a complicated form of hereditary spastic paraplegia.

PMID 26671083 2015 Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients.

PMID 26094131 2015 Hereditary spastic paraplegia SPG4: what is known and not known about the disease.

PMID 27260292 2016 A series of Greek children with pure hereditary spastic paraplegia: clinical features and genetic findings.

PMID 22964162 2012 Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort.

PMID 27217339 2016 Genetic and phenotypic characterization of complex hereditary spastic paraplegia.

PMID 24731568 2014 Hereditary spastic paraparesis in adults. A clinical and genetic perspective from Tuscany.

rs1555494259 in STX1B gene and Movement Disorders

PMID 27781031 2016 Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies.

PMID 8105537 1993 Characterization of a presynaptic glutamate receptor.

PMID 25362483 2014 Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.

rs1554776842 in STXBP1 gene and Movement Disorders

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PMID 27184330 2016 Epilepsy is not a mandatory feature of STXBP1 associated ataxia-tremor-retardation syndrome.

PMID 26865513 2016 STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.

PMID 24836964 2014 Dravet syndrome--from epileptic encephalopathy to channelopathy.

PMID 25914188 2015 Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome.

PMID 16829045 2006 Ohtahara syndrome: with special reference to its developmental aspects for differentiating from early myoclonic encephalopathy.

PMID 25714420 2015 A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype.

PMID 25621899 2015 Whole-genome sequencing of quartet families with autism spectrum disorder.

PMID 21062273 2011 Paternal mosaicism of an STXBP1 mutation in OS.

PMID 18469812 2008 De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy.

PMID 16806828 2006 A new paradigm for West syndrome based on molecular and cell biology.

PMID 9545644 1998 Identification and characterization of the human ortholog of rat STXBP1, a protein implicated in vesicle trafficking and neurotransmitter release.

PMID 24623842 2014 GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.

PMID 20876469 2010 Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations.

PMID 26537360 2016 Targeted Gene Resequencing (Astrochip) to Explore the Tripartite Synapse in Autism-Epilepsy Phenotype with Macrocephaly.

PMID 19557857 2009 De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy.

PMID 21204804 2010 STXBP1 mutations cause not only Ohtahara syndrome but also West syndrome--result of Japanese cohort study.

PMID 22722545 2012 Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A.

PMID 23409955 2013 Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers.

PMID 20196795 2010 Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009.

PMID 22495311 2012 Patterns and rates of exonic de novo mutations in autism spectrum disorders.

PMID 20887364 2010 STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern.

PMID 21364700 2011 Intellectual disability without epilepsy associated with STXBP1 disruption.

PMID 17301226 2007 Munc18-1 binds directly to the neuronal SNARE complex.

PMID 23020937 2012 Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.

PMID 21762454 2011 STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients.

PMID 21770924 2011 Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations.

rs782061187 in SURF1 gene and Movement Disorders

PMID 22488715 2012 SURF1-associated Leigh syndrome: a case series and novel mutations.

PMID 9837813 1998 Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency.

PMID 26443249 2015 Exome Sequencing and Linkage Analysis Identified Novel Candidate Genes in Recessive Intellectual Disability Associated with Ataxia.

PMID 16225813 2005 Unusual clinical presentations in four cases of Leigh disease, cytochrome C oxidase deficiency, and SURF1 gene mutations.

PMID 26762927 2016 Peripheral neuropathy in genetically characterized patients with mitochondrial disorders: A study from south India.

PMID 23829769 2013 SURF1 deficiency: a multi-centre natural history study.

PMID 19780766 2009 SURF1 missense mutations promote a mild Leigh phenotype.

rs1554768709 in SURF2;SURF1 gene and Movement Disorders

PMID 26443249 2015 Exome Sequencing and Linkage Analysis Identified Novel Candidate Genes in Recessive Intellectual Disability Associated with Ataxia.

PMID 9837813 1998 Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency.

PMID 26762927 2016 Peripheral neuropathy in genetically characterized patients with mitochondrial disorders: A study from south India.

PMID 16225813 2005 Unusual clinical presentations in four cases of Leigh disease, cytochrome C oxidase deficiency, and SURF1 gene mutations.

PMID 19780766 2009 SURF1 missense mutations promote a mild Leigh phenotype.

PMID 23829769 2013 SURF1 deficiency: a multi-centre natural history study.

PMID 22488715 2012 SURF1-associated Leigh syndrome: a case series and novel mutations.

rs1554122252 in SYNGAP1 gene and Movement Disorders

PMID 23020937 2012 Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.

PMID 21376300 2011 Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.

PMID 19196676 2009 Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation.

PMID 27827368 2016 Decrease of SYNGAP1 in GABAergic cells impairs inhibitory synapse connectivity, synaptic inhibition and cognitive function.

PMID 20531469 2010 Functional impact of global rare copy number variation in autism spectrum disorders.

PMID 23141534 2012 Pathogenic SYNGAP1 mutations impair cognitive development by disrupting maturation of dendritic spine synapses.

PMID 21237447 2011 De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism.

PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 26079862 2015 De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability.

PMID 23161826 2013 Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency.

PMID 15312654 2004 SynGAP-MUPP1-CaMKII synaptic complexes regulate p38 MAP kinase activity and NMDA receptor-dependent synaptic AMPA receptor potentiation.

PMID 23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.

PMID 23708187 2013 Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

PMID 28576131 2017 Analysis of 31-year-old patient with SYNGAP1 gene defect points to importance of variants in broader splice regions and reveals developmental trajectory of SYNGAP1-associated phenotype: case report.

PMID 26989088 2016 Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy.

PMID 22604720 2012 Evolution and functional impact of rare coding variation from deep sequencing of human exomes.

rs796053403 in TBC1D24 gene and Movement Disorders

PMID 28428906 2017 TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus.

PMID 28663785 2017 Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disability.

PMID 24387994 2014 Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86.

PMID 25769375 2015 Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability.

PMID 24291220 2014 The genetic basis of DOORS syndrome: an exome-sequencing study.

PMID 26207815 2015 A Novel Homozygous TBC1D24 Mutation Causing Multifocal Myoclonus With Cerebellar Involvement.

PMID 28292732 2017 Alternating Hemiplegia and Epilepsia Partialis Continua: A new phenotype for a novel compound TBC1D24 mutation.

PMID 27541164 2016 Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations.

PMID 24469796 2014 TBC1D24 regulates neuronal migration and maturation through modulation of the ARF6-dependent pathway.

PMID 27281533 2016 TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.

PMID 25169651 2014 DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome.

rs1555923822 in TCF20 gene and Movement Disorders

PMID 17151600 2007 Genome-wide atlas of gene expression in the adult mouse brain.

PMID 18351660 2008 Discovery of transcription factors and other candidate regulators of neural crest development.

PMID 27479843 2016 Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability.

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

PMID 27436265 2016 De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

PMID 25228304 2014 De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder.

rs1555764170 in TCF4 gene and Movement Disorders

PMID 22335494 2013 Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome.

PMID 27072915 2016 Phenotype and natural history in 101 individuals with Pitt-Hopkins syndrome through an internet questionnaire system.

PMID 22581936 2012 Clinical application of exome sequencing in undiagnosed genetic conditions.

PMID 21671391 2011 The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria.

PMID 23185296 2012 A common trinucleotide repeat expansion within the transcription factor 4 (TCF4, E2-2) gene predicts Fuchs corneal dystrophy.

PMID 28807867 2017 Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4.

PMID 26087656 2015 Association of TCF4 polymorphisms and Fuchs' endothelial dystrophy: a meta-analysis.

PMID 22045651 2012 Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum.

PMID 21533127 2011 Replication of TCF4 through association and linkage studies in late-onset Fuchs endothelial corneal dystrophy.

PMID 22460224 2012 Pitt-Hopkins syndrome-associated mutations in TCF4 lead to variable impairment of the transcription factor function ranging from hypomorphic to dominant-negative effects.

PMID 22678594 2012 Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome.

PMID 19938247 2009 Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations.

PMID 21245398 2011 Replication of the TCF4 intronic variant in late-onset Fuchs corneal dystrophy and evidence of independence from the FCD2 locus.

PMID 18728071 2008 Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients.

PMID 17478476 2007 Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4.

PMID 22712893 2012 Development, cognition, and behaviour in Pitt-Hopkins syndrome.

PMID 20825314 2010 E2-2 protein and Fuchs's corneal dystrophy.

PMID 18627065 2008 Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome.

PMID 18081026 2008 A loss-of-function mutation in the FTSJ1 gene causes nonsyndromic X-linked mental retardation in a Japanese family.

PMID 17436254 2007 Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction.

PMID 19235238 2009 Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome.

PMID 17436255 2007 Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome).

rs1554923218 in TH gene and Movement Disorders

PMID 20823027 2011 Expanding phenotype and clinical analysis of tyrosine hydroxylase deficiency.

PMID 20430833 2010 Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis.

PMID 24696406 2014 What is new for monoamine neurotransmitter disorders?

rs760265100 in TMEM186;PMM2 gene and Movement Disorders

PMID 26805780 2016 Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation.

PMID 9140401 1997 Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome).

PMID 28373276 2017 Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.

PMID 28425223 2017 Three families with mild PMM2-CDG and normal cognitive development.

PMID 10602363 1999 Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli.

PMID 10527672 1999 Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS type Ia).

PMID 24498599 2013 Biochemical phenotype of a common disease-causing mutation and a possible therapeutic approach for the phosphomannomutase 2-associated disorder of glycosylation.

PMID 15844218 2005 A new insight into PMM2 mutations in the French population.

PMID 11343337 2001 Neurological presentation of a congenital disorder of glycosylation CDG-Ia: implications for diagnosis and genetic counseling.

PMID 26014514 2015 The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein.

PMID 26488408 2015 Heterodimerization of Two Pathological Mutants Enhances the Activity of Human Phosphomannomutase2.

PMID 10854097 2000 Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia).

rs201893408 in TMEM67 gene and Movement Disorders

PMID 25729630 2014 Unraveling the genetics of Joubert and Meckel-Gruber syndromes.

PMID 20232449 2010 Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.

PMID 27491411 2016 Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy.

PMID 19508969 2009 Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).

PMID 25920555 2016 Joubert syndrome: genotyping a Northern European patient cohort.

PMID 10508989 1999 Cerebello-oculo-renal syndromes including Arima, Senior-Löken and COACH syndromes: more than just variants of Joubert syndrome.

PMID 23559409 2013 Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.

PMID 19574260 2010 Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).

PMID 19778711 2009 Joubert syndrome: insights into brain development, cilium biology, and complex disease.

PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

rs727503493 in TMPRSS3 gene and Movement Disorders

PMID 12920079 2003 Pathogenic mutations but not polymorphisms in congenital and childhood onset autosomal recessive deafness disrupt the proteolytic activity of TMPRSS3.

PMID 26036852 2016 TMPRSS3 mutations in autosomal recessive nonsyndromic hearing loss.

PMID 28263784 2017 Putative TMPRSS3/GJB2 digenic inheritance of hearing loss detected by targeted resequencing.

PMID 17981648 2008 TMPRSS3, a type II transmembrane serine protease mutated in non-syndromic autosomal recessive deafness.

PMID 26408194 2016 Pathogenic p.Cys194Metfs*17 variant argues against TMPRSS3/GJB2 digenic inheritance of hearing loss.

PMID 21786053 2011 Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations.

rs1553608726 in TRAK1 gene and Movement Disorders

PMID 28364549 2017 Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathy.

PMID 18675823 2008 Hypertonia-associated protein Trak1 is a novel regulator of endosome-to-lysosome trafficking.

PMID 23395375 2013 TRAK/Milton motor-adaptor proteins steer mitochondrial trafficking to axons and dendrites.

PMID 28300646 2017 Developmental changes in trak-mediated mitochondrial transport in neurons.

PMID 15644324 2005 GRIF-1 and OIP106, members of a novel gene family of coiled-coil domain proteins: association in vivo and in vitro with kinesin.

PMID 16380713 2006 Trak1 mutation disrupts GABA(A) receptor homeostasis in hypertonic mice.

PMID 12435728 2003 Identification and cloning of a novel family of coiled-coil domain proteins that interact with O-GlcNAc transferase.

PMID 24161670 2013 Delineation of the TRAK binding regions of the kinesin-1 motor proteins.

PMID 23603762 2013 Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.

rs1555162303 in TUBA1A gene and Movement Disorders

PMID 22264709 2012 TUBA1A mutation-associated lissencephaly: case report and review of the literature.

PMID 24860126 2014 The wide spectrum of tubulinopathies: what are the key features for the diagnosis?

PMID 20466733 2010 TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins.

PMID 23528852 2014 A case of TUBA1A mutation presenting with lissencephaly and Hirschsprung disease.

PMID 25008804 2015 Mutations in α- and β-tubulin encoding genes: implications in brain malformations.

PMID 23361065 2013 Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.

PMID 17584854 2007 Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).

PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

PMID 18728072 2008 Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations.

PMID 18954413 2008 Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly.

PMID 18669490 2008 Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A.

rs587777429 in TUBB4A gene and Movement Disorders

PMID 21956287 2011 Whispering dysphonia in an Australian family (DYT4): a clinical and genetic reappraisal.

PMID 24742798 2014 Clinical exome sequencing identifies a novel TUBB4A mutation in a child with static hypomyelinating leukodystrophy.

PMID 12372733 2002 New syndrome characterized by hypomyelination with atrophy of the basal ganglia and cerebellum.

PMID 23595291 2013 Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene.

PMID 24706558 2014 Novel TUBB4A mutations and expansion of the neuroimaging phenotype of hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC).

PMID 24526230 2014 Expansion of the spectrum of TUBB4A-related disorders: a new phenotype associated with a novel mutation in the TUBB4A gene.

PMID 20191564 2010 Tumoral and tissue-specific expression of the major human beta-tubulin isotypes.

PMID 23424103 2013 Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia.

PMID 23582646 2013 A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum.

PMID 27188707 2016 Dystonia-Causing Mutations as a Contribution to the Etiology of Spasmodic Dysphonia.

PMID 24974158 2015 A de novo TUBB4A mutation in a patient with hypomyelination mimicking Pelizaeus-Merzbacher disease.

PMID 28592043 2017 [A report of atypical hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum caused by a de novo mutation in tubulin beta 4A (TUBB4A) gene and literature review].

PMID 24785942 2014 Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.

PMID 24850488 2014 Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies.

PMID 28655586 2017 Screening study of TUBB4A in isolated dystonia.

PMID 25168210 2015 TUBB4A novel mutation reinforces the genotype-phenotype correlation of hypomyelination with atrophy of the basal ganglia and cerebellum.

PMID 25545912 2015 H-ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations?

PMID 25085639 2014 TUBB4A de novo mutations cause isolated hypomyelination.

PMID 26318963 2015 Large-scale TUBB4A mutational screening in isolated dystonia and controls.

PMID 26643067 2016 TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients.

rs1555391286 in UBE3A;SNHG14 gene and Movement Disorders

PMID 25884337 2015 15q11.2 Duplication Encompassing Only the UBE3A Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes.

PMID 22670133 2012 Molecular and Clinical Aspects of Angelman Syndrome.

PMID 2309781 1990 Maternal origin of 15q11-13 deletions in Angelman syndrome suggests a role for genomic imprinting.

PMID 24876791 2014 Angelman syndrome: review of clinical and molecular aspects.

PMID 25212744 2014 Mutation Update for UBE3A variants in Angelman syndrome.

PMID 8988171 1997 UBE3A/E6-AP mutations cause Angelman syndrome.

PMID 26219744 2015 The neurobehavioral and molecular phenotype of Angelman Syndrome.

PMID 17940072 2008 The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology.

PMID 19213023 2009 Novel UBE3A mutations causing Angelman syndrome: different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions.

PMID 17765640 2008 Are there distinctive sleep problems in Angelman syndrome?

PMID 15263005 2004 Biochemical analysis of Angelman syndrome-associated mutations in the E3 ubiquitin ligase E6-associated protein.

PMID 16470747 2006 Angelman syndrome 2005: updated consensus for diagnostic criteria.

rs139515727 in VARS2 gene and Movement Disorders

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PMID 21708121 2011 Human diseases with impaired mitochondrial protein synthesis.

PMID 25058219 2014 Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

PMID 23433712 2013 Mitochondrial aminoacyl-tRNA synthetases in human disease.

PMID 27290639 2016 New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.

PMID 24827421 2014 VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies.

rs1554884733 in VPS13B gene and Movement Disorders

PMID 9628581 1998 Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.

PMID 19006247 2009 Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1.

PMID 11477603 2001 Cohen syndrome: essential features, natural history, and heterogeneity.

PMID 22382802 2012 Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders.

PMID 20656880 2010 Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome.

PMID 16648375 2006 Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome.

PMID 15141358 2004 Delineation of Cohen syndrome following a large-scale genotype-phenotype screen.

PMID 12730828 2003 Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport.

PMID 17990063 2007 Clinical and molecular characterization of Italian patients affected by Cohen syndrome.

PMID 15498460 2004 Analysis of the human VPS13 gene family.

PMID 21418059 2011 Clinical variability of genetic isolates of Cohen syndrome.

PMID 26104215 2015 Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features.

rs1557084549 in WDR45 gene and Movement Disorders

PMID 23176820 2012 Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.

PMID 25263061 2014 Early manifestations of BPAN in a pediatric patient.

PMID 20562859 2010 Network organization of the human autophagy system.

PMID 23687123 2013 β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation.

PMID 24621584 2014 De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain.

PMID 24847269 2014 Neurodegeneration with brain iron accumulation: update on pathogenic mechanisms.

PMID 26173968 2016 Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient.

PMID 23435086 2013 De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood.

PMID 28932395 2017 Japanese WDR45 de novo mutation diagnosed by exome analysis: A case report.

PMID 25592411 2015 Analysis of the C19orf12 and WDR45 genes in patients with neurodegeneration with brain iron accumulation.

rs1553270522 in ZBTB18 gene and Movement Disorders

PMID 11179890 2001 Zinc finger proteins: new insights into structural and functional diversity.

PMID 11350943 2001 Dnmt3a binds deacetylases and is recruited by a sequence-specific repressor to silence transcription.

PMID 19409883 2009 The transcriptional repressor RP58 is crucial for cell-division patterning and neuronal survival in the developing cortex.

PMID 11854316 2002 Transcription factor haploinsufficiency: when half a loaf is not enough.

PMID 14681759 2003 Frameshift mutation of the zinc finger homeo box 1 B gene in syndromic corpus callosum agenesis (Mowat-Wilson syndrome).

PMID 17447250 2007 Spatial and temporal expression of RP58, a novel zinc finger transcriptional repressor, in mouse brain.

PMID 17668379 2007 Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum.

PMID 10567577 1999 The zinc finger-associated SCAN box is a conserved oligomerization domain.

PMID 22678713 2012 Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures.

PMID 22513377 2012 Rp58 is essential for the growth and patterning of the cerebellum and for glutamatergic and GABAergic neuron development.

PMID 20059953 2009 A systems approach reveals that the myogenesis genome network is regulated by the transcriptional repressor RP58.

PMID 27598823 2017 Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features.

PMID 25131622 2014 Clinical whole exome sequencing in child neurology practice.

PMID 23494996 2013 Haploinsufficiency of ZNF238 is associated with corpus callosum abnormalities in 1q44 deletions.

PMID 26740508 2016 Identification of novel genetic causes of Rett syndrome-like phenotypes.

PMID 22234186 2012 RP58 controls neuron and astrocyte differentiation by downregulating the expression of Id1-4 genes in the developing cortex.

PMID 9756912 1998 RP58 associates with condensed chromatin and mediates a sequence-specific transcriptional repression.

PMID 24193349 2014 A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome.

PMID 9568537 1997 C2H2-171: a novel human cDNA representing a developmentally regulated POZ domain/zinc finger protein preferentially expressed in brain.

PMID 24614070 2014 Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.

PMID 23020937 2012 Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.

PMID 20672375 2010 Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.

PMID 22095278 2012 RP58/ZNF238 directly modulates proneurogenic gene levels and is required for neuronal differentiation and brain expansion.

PMID 21800092 2012 High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44.

PMID 20382278 2010 Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene.

PMID 21934713 2012 Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44.

rs752283089 in ZFYVE26 gene and Movement Disorders

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 25497598 2015 Exome sequencing in undiagnosed inherited and sporadic ataxias.

rs377025174 in ZNF142;BCS1L gene and Movement Disorders

PMID 19508421 2009 Clinical and biochemical spectrum of mitochondrial complex III deficiency caused by mutations in the BCS1L gene.

PMID 17403714 2007 Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy.

PMID 11528392 2001 A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.

PMID 12215968 2002 GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L.

PMID 17314340 2007 Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome.

rs1350201776 in ZNF335 gene and Movement Disorders

PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

PMID 27540107 2016 Association Between Invisible Basal Ganglia and ZNF335 Mutations: A Case Report.

PMID 22495306 2012 De novo mutations revealed by whole-exome sequencing are strongly associated with autism.

PMID 19131338 2009 Identification and characterization of a novel nuclear protein complex involved in nuclear hormone receptor-mediated gene regulation.

PMID 23178126 2012 Microcephaly gene links trithorax and REST/NRSF to control neural stem cell proliferation and differentiation.