Condition: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
rs797044878 in
GNAO1 gene and
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
PMID 28357411 2017 GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome.
PMID 25966631 2016 Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay.
PMID 26060304 2016 Progressive Movement Disorder in Brothers Carrying a GNAO1 Mutation Responsive to Deep Brain Stimulation.
PMID 27068059 2016 Clinical Course of Six Children With GNAO1 Mutations Causing a Severe and Distinctive Movement Disorder.
PMID 27864847 2017 Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.
PMID 28688840 2017 Impact of clinical exomes in neurodevelopmental and neurometabolic disorders.
PMID 27625011 2016 Recurrent GNAO1 Mutations Associated With Developmental Delay and a Movement Disorder.
rs886041715 in
GNAO1;DKFZP434H168;LOC283856 gene and
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
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.
PMID 29390993 2018 Efficient strategy for the molecular diagnosis of intractable early-onset epilepsy using targeted gene sequencing.
rs118192185 in
KCNQ2 gene and
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
PMID 14985406 2004 Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interaction.
PMID 23934111 2013 De novo mutations in epileptic encephalopathies.
PMID 25982755 2015 Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome.
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 23692823 2013 Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2.
PMID 14534157 2003 KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum.
PMID 27779742 2017 Gene mutation analysis of 175 Chinese patients with early-onset epileptic encephalopathy.
PMID 25473036 2014 Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.
rs1553519902 in
LOC102724058;SCN1A-AS1;SCN1A gene and
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
PMID 17054685 2006 Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy.
PMID 12083760 2002 Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy.
PMID 28102150 2017 Ultra-rare genetic variation in common epilepsies: a case-control sequencing study.
PMID 21248271 2011 Genotype-phenotype associations in SCN1A-related epilepsies.
PMID 28202706 2017 Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations.
PMID 18930999 2009 Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients.
PMID 17347258 2007 The spectrum of SCN1A-related infantile epileptic encephalopathies.
PMID 27465585 2016 Pitfalls in genetic testing: the story of missed SCN1A mutations.
PMID 29186148 2017 A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations.
PMID 23195492 2012 Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy.
PMID 25348405 2015 UniProt: a hub for protein information.
PMID 23934111 2013 De novo mutations in epileptic encephalopathies.
PMID 18804930 2009 A catalog of SCN1A variants.
rs794726744 in
LOC102724058;SCN1A;SCN1A-AS1 gene and
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
PMID 24168886 2014 Early clinical features and diagnosis of Dravet syndrome in 138 Chinese patients with SCN1A mutations.
PMID 18930999 2009 Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients.
PMID 23808377 2013 Dravet syndrome: new potential genetic modifiers, imaging abnormalities, and ictal findings.
PMID 17347258 2007 The spectrum of SCN1A-related infantile epileptic encephalopathies.
PMID 12821740 2003 Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy.
PMID 14504318 2003 Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms.
rs1043031572 in
SCN1A-AS1;LOC102724058;SCN1A gene and
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
PMID 18930999 2009 Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients.
rs121917937 in
SCN1A-AS1;SCN1A gene and
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
PMID 17054685 2006 Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy.
PMID 17054684 2006 Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations.
PMID 25348405 2015 UniProt: a hub for protein information.
PMID 22050978 2012 PCDH19 mutation in Japanese females with epilepsy.
PMID 12821740 2003 Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy.
PMID 18804930 2009 A catalog of SCN1A variants.
PMID 19589774 2010 De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin.
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.
PMID 21248271 2011 Genotype-phenotype associations in SCN1A-related epilepsies.
PMID 23195492 2012 Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy.
PMID 1893099 1991 Silencer region of a chalcone synthase promoter contains multiple binding sites for a factor, SBF-1, closely related to GT-1.
PMID 16458823 2006 Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of infancy.
PMID 23808377 2013 Dravet syndrome: new potential genetic modifiers, imaging abnormalities, and ictal findings.
PMID 27465585 2016 Pitfalls in genetic testing: the story of missed SCN1A mutations.
rs121917951 in
SCN1A-AS1;SCN1A;LOC102724058 gene and
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
PMID 18804930 2009 A catalog of SCN1A variants.
PMID 25348405 2015 UniProt: a hub for protein information.
PMID 17054684 2006 Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations.
PMID 23895530 2013 Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome.
PMID 11940708 2002 Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy.
rs121917919 in
SCN1A;LOC102724058;SCN1A-AS1 gene and
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
PMID 17561957 2007 Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.
PMID 25818041 2015 Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
PMID 25348405 2015 UniProt: a hub for protein information.
PMID 18804930 2009 A catalog of SCN1A variants.
PMID 21248271 2011 Genotype-phenotype associations in SCN1A-related epilepsies.
PMID 18930999 2009 Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients.
PMID 17347258 2007 The spectrum of SCN1A-related infantile epileptic encephalopathies.
rs121917964 in
SCN1A;SCN1A-AS1 gene and
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
PMID 22050978 2012 PCDH19 mutation in Japanese females with epilepsy.
PMID 23195492 2012 Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy.
PMID 17347258 2007 The spectrum of SCN1A-related infantile epileptic encephalopathies.
PMID 21864321 2011 Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome.
PMID 27781031 2016 Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies.
PMID 18804930 2009 A catalog of SCN1A variants.
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 25348405 2015 UniProt: a hub for protein information.
PMID 21371021 2011 Adults with a history of possible Dravet syndrome: an illustration of the importance of analysis of the SCN1A gene.
PMID 21248271 2011 Genotype-phenotype associations in SCN1A-related epilepsies.
PMID 17054684 2006 Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations.
PMID 25669891 2014 Association of severe myoclonic epilepsy of infancy (SMEI) with probable autoimmune lymphoproliferative syndrome-variant.
PMID 18554359 2008 Seven novel SCN1A mutations in Chinese patients with severe myoclonic epilepsy of infancy.
rs121918793 in
SCN1A;SCN1A-AS1;LOC102724058 gene and
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
PMID 21248271 2011 Genotype-phenotype associations in SCN1A-related epilepsies.
PMID 28102150 2017 Ultra-rare genetic variation in common epilepsies: a case-control sequencing study.
PMID 25348405 2015 UniProt: a hub for protein information.
PMID 28708303 2018 Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients.
PMID 12083760 2002 Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy.
PMID 18076640 2008 A screening test for the prediction of Dravet syndrome before one year of age.
PMID 18804930 2009 A catalog of SCN1A variants.
PMID 16210358 2005 Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures.
PMID 12566275 2003 Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures.
PMID 27465585 2016 Pitfalls in genetic testing: the story of missed SCN1A mutations.
PMID 25459969 2015 SCN2A mutation in a Chinese boy with infantile spasm - response to Modified Atkins Diet.
rs1057518487 in
SCN8A gene and
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
PMID 29121005 2018 De novo variants in the alternative exon 5 of SCN8A cause epileptic encephalopathy.
PMID 26029160 2015 Recurrent and Non-Recurrent Mutations of SCN8A in Epileptic Encephalopathy.
PMID 25568300 2015 The phenotypic spectrum of SCN8A encephalopathy.
PMID 25951352 2015 Electroclinical features of epileptic encephalopathy caused by SCN8A mutation.
PMID 24888894 2014 Early onset epileptic encephalopathy caused by de novo SCN8A mutations.
PMID 26647175 2016 Secondary neurotransmitter deficiencies in epilepsy caused by voltage-gated sodium channelopathies: A potential treatment target?
PMID 26900580 2016 Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy.
PMID 27779742 2017 Gene mutation analysis of 175 Chinese patients with early-onset epileptic encephalopathy.
PMID 28387369 2017 Unexplained Early Infantile Epileptic Encephalopathy in Han Chinese Children: Next-Generation Sequencing and Phenotype Enriching.
rs1554778417 in
STXBP1 gene and
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
PMID 26384463 2016 Loss-of-function mutations of STXBP1 in patients with epileptic encephalopathy.
PMID 20887364 2010 STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern.
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 26993267 2016 Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
PMID 25356970 2015 Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.
PMID 26865513 2016 STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.