KCNMA1基因相关神经系统疾病表型谱及治疗研究进展  

Research progress in phenotypes and treatments of KCNMA1-related neurological disorders

作　　者：田小娟 丁昌红 TIAN Xiao-juan;DING Chang-hong(Department of Neurology,Neurological Center,Beijing Children's Hospital,Capital Medical University,National Center for Children's Health,Beijing 100045,China)

机构地区：[1]国家儿童医学中心、首都医科大学附属北京儿童医院神经中心、神经内科,北京100045

出　　处：《中国实用儿科杂志》2023年第7期541-544,共4页Chinese Journal of Practical Pediatrics

基　　金：中国抗癫痫协会癫痫科研基金项目(CU-2022-018)。

摘　　要：近年来,癫痫与运动障碍共患逐渐受到神经科医生的关注。其中离子通道病是其重要病因。KCNMA1基因为钾离子通道编码基因,KCNMA1变异相关神经系统疾病表型谱包括阵发性非运动诱发性运动障碍和(或)癫痫。文章旨在针对KCNMA1基因变异相关神经系统疾病表型谱及治疗进行系统总结,以指导临床工作。In recent years,the comorbidity of epilepsy and motor disorders has gradually attracted the attention of neurologists.Among them,ion channel disease is an important cause.KCNMA1 gene is a potassium channel coding gene.The phenotype spectrum of nervous system disease related to KCNMA1 variation includes paroxysmal non-kinesigenic dyskinesia and/or epilepsy.The purpose of this paper is to systematically summarize the phenotype spectrum and treatment of nervous system disease related to KCNMA1 gene variation,so as to guide clinical work.

关 键 词：癫痫 离子通道病 KCNMA1基因 

分 类 号：R72[医药卫生—儿科]