关键词: SCN 1 A基因； 癫痫； 发病机制； 临床表现； 治疗

Abstract: The SCN 1 A gene encodes voltage-gated sodium channel α 1 subunit, and its pathogenic variation can cause seizures by affecting the function of sodium channel. Patients with epilepsy associated with pathogenic SCN1 A gene mutation have high clinical heterogeneity, which show a series of epilepsy phenotype spectrum from benign phenotype to severe phenotype. The location and type of gene variation, mosaic variation and the role of modifier genes are all factors that affect the epilepsy phenotype. Early identification of the clinical characteristics of SCN1A gene-related epilepsy and timely detection of SCN 1 A gene are helpful to achieve accurate diagnosis and treatment and prognosis evaluation of epilepsy. This article reviews the pathogenesis, clinical manifestations, correlation between genotype and clinical phenotype and treatment of SCN 1A generelated epilepsy, so as to improve the understanding of SCN 1 A gene-related epilepsy.

Key words: SCN 1 A gene; epilepsy; pathogenesis; clinical manifestation; treatment