KCNQ2基因及其相关疾病  

KCNQ2 gene and its related diseases

作　　者：许艳(综述) 杨琳[2] 程国强(审校) Xu Yan;Yang Lin;Cheng Guoqiang(Center for Molecular Medicine,Children′s Hospital of Fudan University,Shanghai 201102,China;Key Laboratory of Birth Defects,Children′s Hospital of Fudan University,Shanghai 201102,China;Department of Neonatology,Children′s Hospital of Fudan University,Shanghai 201102,China)

机构地区：[1]复旦大学附属儿科医院分子诊断中心,上海201102 [2]复旦大学上海市出生缺陷防治重点实验室,上海201102 [3]复旦大学附属儿科医院新生儿科,上海201102

出　　处：《国际儿科学杂志》2020年第4期255-258,共4页International Journal of Pediatrics

摘　　要：KCNQ2基因编码电压门控钾离子通道,在大脑中表达。KCNQ2变异导致临床上严重程度不同的疾病,包括从临床症状较轻、精神运动发育良好的良性家族性新生儿惊厥1型,到临床症状严重、伴有中至重度精神运动发育障碍的早期婴儿癫痫性脑病7型等一系列的癫痫谱系疾病。目前,根据变异位点所做的研究,KCNQ2相关疾病发病机制主要包括两个方面:变异导致功能受损及异常功能的增多。该文对KCNQ2基因及与KCNQ2相关的疾病的发病机制、临床表现进行了综述。KCNQ2 encodes a voltage-gated potassium channel that is expressed in the brain.KCNQ2 mutation causes different disease severity ranging from benign familial neonatal seizures 1 with mild clinical symptoms and good psychomotor development at the mild end to early infantile epileptic encephalopathy 7 with severe clinical symptoms and moderate to severe psychomotor developmental abnormalities.At present,according to mutation sites,the pathogenesis of KCNQ2-related disorders includes loss-of-function effects and gain-of-function effects.This article reviews the pathogenesis and clinical manifestations of KCNQ2 gene and KCNQ2-related disorders.

关 键 词：KCNQ2相关疾病 良性家族性新生儿惊厥1型 早期婴儿癫痫性脑病7型 致病变异 

分 类 号：R33[医药卫生—人体生理学]