rs150155252
This variant is located in the SCN1A gene.
▶ClinVar annotation
Migraine, familial hemiplegic, 3; Epilepsy; Generalized epilepsy with febrile seizures plus, type 2; not provided
View on ClinVar →▶Research that mentions this SNP (1)
▶Association study of the serotoninergic system in migraine in the spanish populationFunctionalN=149Corominas R. et al.(2010)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
Development and validation of a targeted NGS panel for diagnosing familial hemiplegic migraine (FHM), episodic ataxia type 2 (EA2), CADASIL, and migraine with aura. In 149 patients across 4 cohorts (55 FHM, 44 CADASIL, 31 EA2, 19 migraine families), the panel identified novel and known mutations in genes CACNA1A, ATP1A2, SCN1A, and NOTCH3, increasing mutation detection rate from 7.7% to 28.5%. Notably, ATP1A2 and NOTCH3 mutations were identified in typical migraine with aura families for the first time, demonstrating aetiological overlap with FHM.
About SCN1A
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. [provided by RefSeq, Oct 2015]
View all SCN1A variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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