Gene: SCN1A

Alternate names for this Gene: DEE6|DRVT|EIEE6|FEB3|FEB3A|FHM3|GEFSP2|HBSCI|NAC1|Nav1.1|SCN1|SMEI

Gene Summary: Voltage-dependent sodium channels are heteromeric complexes that regulate sodium exchange between intracellular and extracellular spaces and are essential for the generation and propagation of action potentials in muscle cells and neurons. Each sodium channel is composed of a large pore-forming, glycosylated alpha subunit and two smaller beta subunits. This gene encodes a sodium channel alpha subunit, which has four homologous domains, each of which contains six transmembrane regions. Allelic variants of this gene are associated with generalized epilepsy with febrile seizures and epileptic encephalopathy. Alternative splicing results in multiple transcript variants. The RefSeq Project has decided to create four representative RefSeq records. Three of the transcript variants are supported by experimental evidence and the fourth contains alternate 5' untranslated exons, the exact combination of which have not been experimentally confirmed for the full-length transcript.

Gene is located in Chromosome: 2

Location in Chromosome : 2q24.3

Description of this Gene: sodium voltage-gated channel alpha subunit 1

Type of Gene: protein-coding

Gene: LOC102724058

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: SCN1A-AS1

Alternate names for this Gene: -

Gene Summary:

Gene is located in Chromosome: 2

Location in Chromosome : 2q24.3

Description of this Gene: SCN1A and SCN9A antisense RNA 1

Type of Gene: ncRNA

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.

rs121917911 in SCN1A;LOC102724058;SCN1A-AS1 gene and Early Infantile Epileptic Encephalopathy 6 PMID 14672992 2003 Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A.

PMID 12566275 2003 Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures.

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

PMID 20298421 2010 EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.

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 12821740 2003 Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy.

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

PMID 22092154 2012 Acute encephalopathy in children with Dravet syndrome.

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

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

PMID 15087100 2004 Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy.

PMID 19563458 2010 Novel SCN1A mutations in Indonesian patients with severe myoclonic epilepsy in infancy.

PMID 16122630 2005 A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures.

PMID 20431604 2010 Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome.

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

PMID 20729507 2010 Genotype-phenotype correlations in a group of 15 SCN1A-mutated Italian patients with GEFS+ spectrum (seizures plus, classical and borderline severe myoclonic epilepsy of infancy).

PMID 19522081 2009 Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies.

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

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

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

PMID 21864321 2011 Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome.

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

PMID 17507202 2007 Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation.

PMID 16210358 2005 Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures.

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

PMID 23086956 2012 Nontruncating SCN1A mutations associated with severe myoclonic epilepsy of infancy impair cell surface expression.

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

PMID 15263074 2004 Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy.

PMID 21425109 2011 [Clinical, electroencephalographic and genomic characteristics of patients with epilepsy with febrile seizures plus].

rs121918744 in SCN1A;LOC102724058;SCN1A-AS1 gene and GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2 PMID 20117752 2010 Generalized epilepsy with febrile seizures plus: novel SCN1A mutation.

PMID 20600615 2010 Novel mutation of SCN1A in familial generalized epilepsy with febrile seizures plus.

PMID 19522081 2009 Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies.

PMID 19339291 2009 A novel inherited mutation in the voltage sensor region of SCN1A is associated with Panayiotopoulos syndrome in siblings and generalized epilepsy with febrile seizures plus.

PMID 17507202 2007 Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation.

PMID 18413471 2008 Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified.

PMID 17928445 2007 Modulatory proteins can rescue a trafficking defective epileptogenic Nav1.1 Na+ channel mutant.

PMID 15715999 2005 A family of generalized epilepsy with febrile seizures plus type 2-a new missense mutation of SCN1A found in the pedigree of several patients with complex febrile seizures.

PMID 12919402 2003 Two novel SCN1A missense mutations in generalized epilepsy with febrile seizures plus.

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

PMID 17927801 2008 Genetic screening of Scandinavian families with febrile seizures and epilepsy or GEFS+.

PMID 19464195 2009 Variable neurologic phenotype in a GEFS+ family with a novel mutation in SCN1A.

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

PMID 10742094 2000 Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.

PMID 11756608 2001 Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation.

PMID 11254445 2001 A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy.

PMID 15525788 2004 A novel epilepsy mutation in the sodium channel SCN1A identifies a cytoplasmic domain for beta subunit interaction.

PMID 11524484 2001 Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures.

PMID 21864321 2011 Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome.

PMID 20729507 2010 Genotype-phenotype correlations in a group of 15 SCN1A-mutated Italian patients with GEFS+ spectrum (seizures plus, classical and borderline severe myoclonic epilepsy of infancy).

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.

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.