摘要
癫痫是最常见的慢性神经系统疾病之一,病因多样,发病机制复杂。离子通道基因突变是癫痫常见的遗传学病因。电压门控氯离子通道(ClCs)可通过影响神经元细胞膜两侧的Cl-浓度和电势差,从而参与神经元兴奋性调节。近期研究显示,CLCN-1、CLCN-2、CLCN-3、CLCN-4和CLCN-6与癫痫相关,这些基因突变可增加癫痫的易感性或引起癫痫发作。现就ClCs与癫痫的研究进展作一综述。
Epilepsy is one of the most common chronic neurological diseases,which results from diverse etiologies,and its mechanism is very complicated.Ion channel gene mutation is a common genetic cause of epilepsy.Voltage-gated chloride channels(ClCs)can change the chloride ion concentration and electric potential difference across the plasma membrane,and thereby regulate the electrical excitability of neurons.CLCN-1,CLCN-2,CLCN-3,CLCN-4 and CLCN-6 are reported to be associated with epilepsy,which could increase susceptibility to epilepsy or cause seizures.This review is focused on recent advances in ClCs and epilepsy.
作者
贺海兰
彭镜
He Hailan;Peng Jing(Department of Pediatrics,Xiangya Hospital of Central South University,Changsha 410000,China)
出处
《中华实用儿科临床杂志》
CSCD
北大核心
2019年第24期1911-1914,共4页
Chinese Journal of Applied Clinical Pediatrics
基金
国家自然科学基金(81771409)。
关键词
电压门控氯离子通道
氯离子
癫痫
基因
Voltage-gated chloride channel
Chloride ion
Epilepsy
Gene
