离子通道基因在癫痫治疗中的价值  

Value of ion channel genes in epilepsy treatment

作　　者：韩文杰 黎振声 康健捷 邓兵梅 Han Wenjie;Li Zhensheng;Kang Jianjie;Deng Bingmei(Department of Neurology,General Hospital of Southern Theater Command of PLA,Guangzhou 510010,China)

机构地区：[1]中国人民解放军南部战区总医院神经内科,广州510010

出　　处：《中华神经医学杂志》2024年第3期240-245,共6页Chinese Journal of Neuromedicine

基　　金：广东省医学科学技术研究基金项目(A2022402)。

摘　　要：目前通过多种基因测序技术如靶向测序、全外显子组测序(WES)和全基因组测序(WGS)等已发现大约1000个癫痫相关基因,其中离子通道基因是目前研究最多的基因,大约25%的单基因遗传性癫痫与离子通道基因的变异有关。本文围绕近年来离子通道基因在癫痫治疗中的价值研究进展进行综述,以提高对癫痫相关离子通道基因的认识,从而优化癫痫的治疗策略。By gene sequencing methods,such as targeted sequencing,whole exome sequencing(WES)and whole genome sequencing(WGS),about 1,000 epilepsy-related genes have been identified recently;and ion channel related genes are the most common genes being studied;about 25%single-gene inherited epilepsy is associated with ion channel gene variants.This article reviews the value of ion channel genes in epilepsy treatment so as to improve the understanding of epilepsy related ion channel genes and further optimize the treatment strategy of epilepsy.

关 键 词：癫痫 治疗 离子通道基因 心脑通道病 反义寡核苷酸 

分 类 号：R742.1[医药卫生—神经病学与精神病学]