中文摘要：

电压门控钠离子通道（voltage-gated sodium channels,VGSCs）在动作电位产生和传导中至关重要。近年来研究发现,VGSCs与癫痫发病机制有着密切关系,许多癫痫综合征的发生已被证明是由VGSCs相关突变引起,且VGSCs的两种亚基（α和β）的相关基因发生突变均可以引起癫痫发作。其中与癫痫相关的α亚基主要有Nav1.1,Nav1.2,Nav1.3,Nav1.6,Nav1.7以及Na等几种亚型。本文就电压门控钠离子通道相关基因突变致癫痫的研究进展进行综述,旨在提高对癫痫的认识。

英文摘要：

The voltage-gated sodium channel is essential in the generation and propagation of action potential.Mutations in sodium channels are responsible for genetic epilepsy syndromes with a wide range of severity.Mutations in genes encoding several α subunits and β subunits have been shown to closely relate to epilepsy.The involved α subunits mainly include Nav1.1,Nav1.2,Nav1.3,Nav1.6,Nav1.7 or Nax.This review summarized the correlation between voltage-gated sodium channels and epilepsy.