电压门控钠离子通道相关基因突变致神经系统病变的研究进展  

Study Progress of Nervous Diseases Caused by Genetic Mutation of Voltage-gated Sodium Channel

作　　者：张鲲[1] 李燕[1] 韩剑虹[1] 

机构地区：[1]昆明医学院第二附属医院神经内科,昆明650101

出　　处：《医学综述》2012年第13期1983-1985,共3页Medical Recapitulate

基　　金：云南省卫生科技计划项目(2010NS056)

摘　　要：电压门控钠通道是神经元启动和传播动作电位的根源,通过其快速的开放和关闭改变膜电位。当编码离子通道亚单位的基因发生突变或者表达异常,或体内出现针对通道的病理性内源物质时,通道的功能出现不同程度的削减或增强,从而导致机体整体生理功能的紊乱,导致某些先天性和后天获得性疾病。电压门控钠离子通道是离子通道的一种,其相关基因的出现异常导致的神经系统疾病主要见于癫痫、家族性偏头痛、周期性麻痹、原发性红斑肢痛症。The voltage-gated sodium channel,changing potential through its rapid opening and closing,is the origin of generating and spreading action potential from neurons.When the mutation,abnormal expression or pathological endogeneous substances occurred in subunits of sodium channel,psychological dysfunction comes along with dysfunction in channels,which lead to some congenital or acquired disorders.The voltage-gated sodium channel is a type of ion channel,the nevous system disorders caused by the related gene abnormality include epilepsy,familial migraine,periodic paralysis and primary erythermalgia.

关 键 词：电压门控钠离子通道 基因 癫痫 家族性偏头疼 周期性麻痹 原发性红斑肢痛症 

分 类 号：R741[医药卫生—神经病学与精神病学]