Condition: X-linked infantile spasms


rs587777057 in GNAO1 gene and X-linked infantile spasms PMID 26060304 2016 Progressive Movement Disorder in Brothers Carrying a GNAO1 Mutation Responsive to Deep Brain Stimulation.

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

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

PMID 28202424 2017 GNAO1-associated epileptic encephalopathy and movement disorders: c.607G>A variant represents a probable mutation hotspot with a distinct phenotype.

PMID 27072799 2016 GNAO1 encephalopathy: further delineation of a severe neurodevelopmental syndrome affecting females.

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

rs1057516085 in KCNQ2 gene and X-linked infantile spasms PMID 25740509 2015 Early-onset epileptic encephalopathy caused by gain-of-function mutations in the voltage sensor of Kv7.2 and Kv7.3 potassium channel subunits.

PMID 23708187 2013 Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

PMID 28867141 2017 Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes.

PMID 28139826 2017 Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H.

PMID 27535030 2017 Clinical and genetic features of 13 Spanish patients with KCNQ2 mutations.

PMID 25880994 2015 Early and effective treatment of KCNQ2 encephalopathy.

PMID 29190809 2017 Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes.

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

PMID 23692823 2013 Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2.

PMID 27779742 2017 Gene mutation analysis of 175 Chinese patients with early-onset epileptic encephalopathy.

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

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

PMID 16039833 2005 Neonatal seizures with tonic clonic sequences and poor developmental outcome.

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

PMID 22455920 2012 Gating currents from Kv7 channels carrying neuronal hyperexcitability mutations in the voltage-sensing domain.

PMID 23440208 2013 Genotype-phenotype correlations in neonatal epilepsies caused by mutations in the voltage sensor of K(v)7.2 potassium channel subunits.

PMID 28133863 2017 Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression.

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

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

PMID 24375629 2014 Novel KCNQ2 and KCNQ3 mutations in a large cohort of families with benign neonatal epilepsy: first evidence for an altered channel regulation by syntaxin-1A.

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

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

PMID 24371303 2014 KCNQ2 encephalopathy: delineation of the electroclinical phenotype and treatment response.

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

PMID 28283543 2017 KCNQ-SMIT complex formation facilitates ion channel-solute transporter cross talk.

PMID 26446091 2016 Seizures Due to a KCNQ2 Mutation: Treatment with Vitamin B6.

rs118192194 in KCNQ2;KCNQ2-AS1 gene and X-linked infantile spasms PMID 27602407 2016 KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients.

PMID 16916607 2006 Subthreshold changes of voltage-dependent activation of the K(V)7.2 channel in neonatal epilepsy.

PMID 26544041 2015 Gene Mutation Analysis in 253 Chinese Children with Unexplained Epilepsy and Intellectual/Developmental Disabilities.

rs773171451 in KCNQ2;LOC105372724 gene and X-linked infantile spasms PMID 25880994 2015 Early and effective treatment of KCNQ2 encephalopathy.

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

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

rs1553524865 in LOC102724058;SCN1A-AS1;SCN1A gene and X-linked infantile spasms PMID 21248271 2011 Genotype-phenotype associations in SCN1A-related epilepsies.

PMID 17347258 2007 The spectrum of SCN1A-related infantile epileptic encephalopathies.

PMID 18930999 2009 Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients.

rs118192236 in LOC105372724;KCNQ2 gene and X-linked infantile spasms PMID 26993267 2016 Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

PMID 14534157 2003 KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum.

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

PMID 27535030 2017 Clinical and genetic features of 13 Spanish patients with KCNQ2 mutations.

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

rs114925667 in NPHP3-ACAD11;UBA5 gene and X-linked infantile spasms PMID 27926783 2017 A novel approach to assess the ubiquitin-fold modifier 1-system in cells.

PMID 27545681 2016 Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy.

PMID 27545674 2016 Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy.

PMID 28965491 2017 Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters.

rs1553520029 in SCN1A-AS1;LOC102724058;SCN1A gene and X-linked infantile spasms PMID 28012175 2017 Clinical implications of SCN1A missense and truncation variants in a large Japanese cohort with Dravet syndrome.

PMID 11940708 2002 Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy.

PMID 24502503 2014 Long-term course of Dravet syndrome: a study from an epilepsy center in Japan.

rs1057523858 in SCN1A-AS1;SCN1A gene and X-linked infantile spasms PMID 25348405 2015 UniProt: a hub for protein information.

PMID 18804930 2009 A catalog of SCN1A variants.

PMID 23195492 2012 Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy.

PMID 23762420 2013 Prevalence of SCN1A-related dravet syndrome among children reported with seizures following vaccination: a population-based ten-year cohort study.

PMID 21248271 2011 Genotype-phenotype associations in SCN1A-related epilepsies.

PMID 12754708 2003 De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy.

PMID 22780858 2012 Dravet syndrome: seizure control and gait in adults with different SCN1A mutations.

PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

PMID 17054684 2006 Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations.

PMID 18930999 2009 Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients.

PMID 22848613 2012 Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome.

PMID 20550552 2010 Partial epilepsy with antecedent febrile seizures and seizure aggravation by antiepileptic drugs: associated with loss of function of Na(v) 1.1.

PMID 12576172 2003 Functional characterization of the D188V mutation in neuronal voltage-gated sodium channel causing generalized epilepsy with febrile seizures plus (GEFS).

PMID 11254444 2001 Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus.

PMID 16075041 2005 Sodium channel mutations in epilepsy and other neurological disorders.

PMID 23895530 2013 Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome.

PMID 25401298 2015 A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.

PMID 17347258 2007 The spectrum of SCN1A-related infantile epileptic encephalopathies.

PMID 18076640 2008 A screening test for the prediction of Dravet syndrome before one year of age.

PMID 25243660 2015 Lamotrigine can be beneficial in patients with Dravet syndrome.

PMID 12083760 2002 Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy.

PMID 27231140 2017 Audit of use of stiripentol in adults with Dravet syndrome.

PMID 28079314 2017 SCN1A Gene Mutation and Adaptive Functioning in 18 Vietnamese Children with Dravet Syndrome.

PMID 16541393 2006 Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy.

PMID 20522430 2010 Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome.

PMID 23821540 2013 Dravet syndrome patient-derived neurons suggest a novel epilepsy mechanism.

rs1553519872 in SCN1A-AS1;SCN1A;LOC102724058 gene and X-linked infantile spasms PMID 27465585 2016 Pitfalls in genetic testing: the story of missed SCN1A mutations.

PMID 18804930 2009 A catalog of SCN1A variants.

PMID 25348405 2015 UniProt: a hub for protein information.

PMID 27781031 2016 Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies.

rs1553522331 in SCN1A;LOC102724058;SCN1A-AS1 gene and X-linked infantile spasms PMID 23708187 2013 Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

rs121917935 in SCN1A;SCN1A-AS1 gene and X-linked infantile spasms PMID 20562086 2010 Mosaicism of a missense SCN1A mutation and Dravet syndrome in a Roma/Gypsy family.

PMID 17054684 2006 Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations.

PMID 14738421 2004 Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB).

PMID 23195492 2012 Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy.

PMID 18804930 2009 A catalog of SCN1A variants.

PMID 25348405 2015 UniProt: a hub for protein information.

PMID 26096185 2015 "Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of ""de novo"" SCN1A Mutations in Children with Dravet Syndrome."

PMID 25818041 2015 Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.

PMID 22780858 2012 Dravet syndrome: seizure control and gait in adults with different SCN1A mutations.

PMID 27231140 2017 Audit of use of stiripentol in adults with Dravet syndrome.

PMID 12083760 2002 Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy.

PMID 25243660 2015 Lamotrigine can be beneficial in patients with Dravet syndrome.

PMID 28079314 2017 SCN1A Gene Mutation and Adaptive Functioning in 18 Vietnamese Children with Dravet Syndrome.

PMID 18076640 2008 A screening test for the prediction of Dravet syndrome before one year of age.

rs542420576 in SCN1A;SCN1A-AS1;LOC102724058 gene and X-linked infantile spasms PMID 21868258 2011 SCN1A mutational analysis in Korean patients with Dravet syndrome.

rs587784453 in STXBP1 gene and X-linked infantile spasms PMID 25693842 2016 Characterization of patients referred for non-specific intellectual disability testing: the importance of autosomal genes for diagnosis.

PMID 26514728 2015 Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases.

PMID 26544041 2015 Gene Mutation Analysis in 253 Chinese Children with Unexplained Epilepsy and Intellectual/Developmental Disabilities.

PMID 23708187 2013 Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

PMID 24781210 2014 The genetic landscape of infantile spasms.

PMID 27779742 2017 Gene mutation analysis of 175 Chinese patients with early-onset epileptic encephalopathy.

PMID 26865513 2016 STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.

PMID 26918652 2016 We generated iPSC lines from a patient with Ohtahara syndrome (OS) harboring a heterozygous nonsense mutation of STXBP1 (c.1099C>T; p.R367X) and performed neuronal differentiation.

PMID 20887364 2010 STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern.

PMID 21762454 2011 STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients.

PMID 25714420 2015 A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype.