rs10188577
This is a intron variant variant in the SCN1A gene.
▶Research that mentions this SNP (2)
▶SCN1A and SCN2A polymorphisms are associated with response to valproic acid in Chinese epilepsy patientsAssociationN=354Lihong Shi et al.(2019)· European Journal of Clinical Pharmacology
This study investigated the association of SCN1A and SCN2A gene polymorphisms with valproic acid (VPA) response in 354 Chinese epilepsy patients. SCN1A rs3812718 (G>A) and SCN2A rs2304016 (A>G) were significantly associated with VPA response in both monotherapy and polytherapy. The rs3812718 A allele was protective against VPA resistance (OR=0.41, P=0.020 for monotherapy), while the rs2304016 G allele increased risk of resistance (OR=2.36, P=0.031 for monotherapy).
▶Case–control association study of polymorphisms in the voltage-gated sodium channel genes SCN1A, SCN2A, SCN3A, SCN1B, and SCN2B and epilepsyAssociationN=3,464Larry Baum et al.(2014)· Human Genetics
Case-control association study of 1,529 epilepsy patients and 1,935 controls from four ethnic groups examined polymorphisms in voltage-gated sodium channel genes (SCN1A, SCN2A, SCN3A, SCN1B, SCN2B) and epilepsy risk. The strongest association was SCN1A rs3812718 (OR=0.85 for allele G, p=0.0009; OR=0.73 for genotype GG vs. AA, p=0.003), with meta-analysis of 7,751 subjects confirming the association (OR=0.81, p=0.002). SCN1A rs10188577 (OR=1.20 for allele C, p=0.003), SCN2A rs12467383 (OR=1.16 for allele A, p=0.01), and SCN2B rs602594 (OR=0.62 for idiopathic epilepsy, p=0.002) also showed significant associations, suggesting sodium channel polymorphisms affect epilepsy susceptibility.
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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