电压门控钙离子通道基因突变与儿童癫痫研究进展  

Research progress of voltage-gated Calcium channel gene mutations associated with epilepsy in children

作　　者：陈舒瑶 夏桂枝[1,2] 聂晓晶 Chen Shuyao;Xia Guizhi;Nie Xiaojing(Department of Pediatrics,Fuzong Clinical Medical College of Fujian Medical University,Fuzhou 350025,China;Hospital of Joint Logistic Support Force PLA,Fuzhou 350025,China)

机构地区：[1]福建医科大学福总临床医学院儿科,福州350025 [2]联勤保障部队第九〇〇医院儿科,福州350025

出　　处：《中华实用儿科临床杂志》2023年第2期154-157,共4页Chinese Journal of Applied Clinical Pediatrics

基　　金：福建省科技创新联合资金项目(2019Y9043)。

摘　　要：电压门控钙离子通道(VGCCs)异常表达和功能障碍会导致儿童多种神经系统疾病,包括癫痫、偏头痛和共济失调等。既往仅认为CACNA1A、CACNA1H、CACNA2D2、CACNB4与儿童癫痫相关。近年来,越来越多与儿童癫痫相关的VGCCs基因被发现,尤其是与发育性和癫痫性脑病相关的基因。现就VGCCs相关基因突变与儿童癫痫的研究进展作一综述。Abnormal expression and dysfunction of voltage-gated Calcium channels(VGCCs)can give rise to a variety of neurological disorders in children,including epilepsy,migraine and ataxia.In the past,only CACNA1A,CACNA1H,CACNA2D2 and CACNB4 were considered associated with epilepsy in children.In recent years,an increasing number of VGCCs gene associated with epilepsy in children have been found,especially developmental and epileptic encephalopathy genes.This study aims to review the research progress of VGCCs gene mutations associated with epilepsy in children.

关 键 词：电压门控钙离子通道 基因 癫痫 发育性和癫痫性脑病 儿童 

分 类 号：R742.1[医药卫生—神经病学与精神病学]