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: 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

Gene: LOC102724058

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

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.

rs1057519533 in SCN1A;SCN1A-AS1;LOC102724058 gene and Early Infantile Epileptic Encephalopathy 6 PMID 20298421 2010 EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.

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 22092154 2012 Acute encephalopathy in children with Dravet syndrome.

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

PMID 14672992 2003 Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

PMID 19673951 2009 Parental SCN1A mutation mosaicism in familial Dravet syndrome.

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

PMID 22409937 2012 Progressive gait deterioration in adolescents with Dravet syndrome.

rs121918801 in SCN1A;SCN1A-AS1;LOC102724058 gene and GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2 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 20600615 2010 Novel mutation of SCN1A in familial generalized epilepsy with febrile seizures plus.

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 20117752 2010 Generalized epilepsy with febrile seizures plus: novel SCN1A mutation.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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