SCN9A基因突变及其与癫痫关系分析

Analysis of SCN9A gene mutation and its relationship with epilepsy

癫痫在临床上较为常见,属于慢性疾病的一种,是因大脑神经元突发性异常放电导致的短暂大脑功能障碍。目前,临床对于癫痫的病因仍存在一定争议。随着临床对癫痫研究的不断深入,有遗传学与生物学研究表明,神经元细胞核中编码离子通道的基因突变导致膜通道蛋白改变引起通道性质与结构的变化与癫痫发病密切相关,而电压门控钠离子通道蛋白在其中扮演着非常重要的角色,它们通过打开与关闭能控制细胞电流的变化,实现对大脑神经元放电的调节。本文主要探讨编码钠离子通道Nav1.7的SCN9A基因与癫痫发病的相关性,旨在为临床癫痫的诊治提供理论参考。

Epilepsy is common clinically,which is a type of chronic disease.It is a transient brain dysfunction caused by sudden abnormal discharge of brain neurons.At present,there is still some controversy about the etiology of epilepsy.With the deepening of clinical researches on epilepsy,genetic and biological studies have shown that mutations in genes encoding ion channels in the nucleus of neurons may lead to changes in membrane channel proteins and changes in channel properties and structures are closely related with epilepsy.Sodium-controlling channel proteins play a very important role in epilepsy.They can control the changes of cell currents by turning them on and off to regulate the discharge of brain neurons.This review mainly discussed the correlation between the SCN9A gene encoding sodium ion channel Nav1.7 and the onset of epilepsy.