SCN1A基因相关癫痫研究进展

Research progress of SCN1A gene-related epilepsy

SCN1A基因编码电压门控钠离子通道α1亚基,其致病性变异可通过影响钠通道的功能导致癫痫发作。SCN1A基因致病性变异相关的癫痫患者具有高度的临床异质性,可表现出从良性表型到严重表型的一系列癫痫表型谱。基因变异的位置及类型、嵌合体变异以及修饰基因的作用等都是影响癫痫表型的因素。早期识别SCN1A基因相关癫痫的临床特点,及时进行SCN1A基因检测,有助于实现癫痫的精准诊疗及预后评估。文章就SCN1A基因相关癫痫的发病机制、临床表现、基因型与临床表型相关性及治疗等进行综述,以提高对SCN1A基因相关癫痫的认识。

The SCN1A gene encodes voltage-gated sodium channelα1 subunit,and its pathogenic variation can cause seizures by affecting the function of sodium channel.Patients with epilepsy associated with pathogenic SCN1A 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 SCN1A 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 SCN1A gene-related epilepsy.