Analysis of SCN1A Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-1488-LGZ)

Introduction

Official Full Name: sodium voltage-gated channel alpha subunit 1
Also known as: DEE6; DRVT; FEB3; FHM3; NAC1; SCN1; SMEI; DEE6A; DEE6B; EIEE6; FEB3A; HBSCI; GEFSP2; Nav1.1
Voltage-dependent sodium channels are heterogeneous complexes that regulate sodium exchange in the extracellular space and are critical for the generation and propagation of action potentials in muscle cells and neurons. Each sodium channel consists of a large, pore-forming, glycosylated α subunit and two smaller β subunits. The gene encodes a sodium channel alpha subunit with four homology domains, each containing six transmembrane domains. 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 decided to create four representative RefSeq records. Three of these transcript variants are supported by experimental evidence, while the fourth transcript variant contains alternate 5' untranslated exons, the exact combination of which has not been experimentally confirmed in the full-length transcript.