KCNQ2基因c.581C>T新发突变致大田原综合征一例报道并文献复习  

Ohtahara Syndrome Caused by a Novel c.581C>T Mutation in the KCNQ2 Gene:a Case Report and Literature Review

作　　者：厉广栩 喻树峰 逯军[1] 陈明辉 王丹虹 陈秀灵 LI Guangxu;YU Shufeng;LU Jun;CHEN Minghui;WANG Danhong;CHEN Xiuling(Haikou Hospital Affiliated to Xiangya School of Medicine,Central South University,Haikou 570208,China)

机构地区：[1]中南大学湘雅医学院附属海口医院

出　　处：《中国全科医学》2019年第21期2641-2644,共4页Chinese General Practice

摘　　要：大田原综合征(OS)是一种罕见的癫痫性脑病,也称为早期婴儿癫痫性脑病。其特征为新生儿期起病,频繁及难以控制的强直痉挛发作的临床表现、典型暴发-抑制脑电图及精神运动发育落后。本文总结了1例KCNQ2基因c.581C>T新发突变致OS患儿的临床特征及基因突变的特点,并进行文献复习,以期提高对该罕见病的认识。OS相关基因突变的识别,可为OS早期诊断、干预、预后判断和遗传咨询提供依据。Ohtahara syndrome(OS) is a rare epileptic encephalopathy,which is also known as early infantile epileptic encephalopathy.It is characterized by neonatal onset,typically frequent and uncontrollable tonic clonic seizure,characteristic suppression-burst patterns on electroencephalography(EEG),and severe psychomotor retardation.In this paper,we summarized the clinical features and gene mutation characteristics of one case with ohtahara syndrome caused by a novel c.581 C>T mutation in the KCNQ2 gene.And relevant literature was reviewed to improve the awareness of this rare disease.Identification of gene mutations will be beneficial to early diagnosis,intervention,prognosis evaluation and genetic counseling for ohtahara syndrome.

关 键 词：脑疾病 大田原综合征 KCNQ2基因 c.581C>T 新发突变 

分 类 号：R742[医药卫生—神经病学与精神病学]