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: 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

rs12151636 in SCN1A-AS1;SCN1A gene and Body mass index PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs12463754 in SCN1A-AS1;SCN1A gene and Duration of sleep PMID 30804565 2019 Genome-wide analysis of insomnia in 1,331,010 individuals identifies new risk loci and functional pathways.

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.

rs1057523858 in SCN1A-AS1;SCN1A gene and Early Infantile Epileptic Encephalopathy 6 PMID 22092154 2012 Acute encephalopathy in children 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 23708187 2013 Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

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

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

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

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

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

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

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

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

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

PMID 15087100 2004 Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in 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 17347258 2007 The spectrum of SCN1A-related infantile epileptic encephalopathies.

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

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

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

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

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

PMID 17054685 2006 Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy.

PMID 22612257 2012 Targeted next generation sequencing as a diagnostic tool in epileptic disorders.

PMID 17561957 2007 Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.

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

PMID 21703448 2011 Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy.

PMID 24168886 2014 Early clinical features and diagnosis of Dravet syndrome in 138 Chinese patients with SCN1A mutations.

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

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

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

PMID 22150645 2012 Pure haploinsufficiency for Dravet syndrome Na(V)1.1 (SCN1A) sodium channel truncating mutations.

PMID 20879882 2010 Timing of de novo mutagenesis--a twin study of sodium-channel mutations.

PMID 11359211 2001 De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy.

PMID 19589774 2010 De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin.

PMID 23884151 2013 The SCN1A gene variants and epileptic encephalopathies.

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

PMID 20491869 2010 Acute encephalopathy with a truncation mutation in the SCN1A gene: a case report.

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

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

PMID 16458823 2006 Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of infancy.

PMID 22151702 2012 Mosaic SCN1A mutations in familial partial epilepsy with antecedent febrile seizures.

PMID 23808377 2013 Dravet syndrome: new potential genetic modifiers, imaging abnormalities, and ictal findings.

rs2212656 in SCN1A-AS1;SCN1A gene and Epilepsies, Partial PMID 30531953 2018 Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies.

rs121918817 in SCN1A-AS1;SCN1A gene and Epilepsy, Rolandic PMID 29358611 2018 Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.

rs121917906 in SCN1A-AS1;SCN1A gene and GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2 PMID 21864321 2011 Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

PMID 16326807 2005 Identification of an Nav1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizures.

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

rs11692675 in SCN1A-AS1;SCN1A gene and Mesial temporal lobe epilepsy with hippocampal sclerosis PMID 24014518 2013 Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.

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.

rs666833 in SCN1A-AS1;SCN1A gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.