非典型良性家族性新生儿癫痫患儿的诊治及文献复习  

Atypical benign familial neonatal epilepsy:a case report and literature review

作　　者：宁俊杰 乔莉娜[1,2] Ning Junjie;Qiao Lina(Department of Pediatric Intensive Care Unit,Key Laboratory of Birth Defects and Related Diseases of Women and Children(Sichuan University),Ministry of Education,West China Second University Hospital,Sichuan University,Chengdu 610041,Sichuan Province,China;NHC Key Laboratory of Chronobiology(Sichuan University),Chengdu 610041,Sichuan Province,China)

机构地区：[1]四川大学华西第二医院儿童重症医学科、出生缺陷与相关妇儿疾病教育部重点实验室,成都610041 [2]国家卫生健康委员会时间生物学重点实验室(四川大学),成都610041

出　　处：《中华妇幼临床医学杂志（电子版）》2022年第3期307-314,共8页Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition)

基　　金：四川省中央引导地方科技发展专项项目(2021ZYD0105)。

摘　　要：目的探讨非典型良性家族性新生儿癫痫(BFNE)患儿的临床特征、家系调查及基因突变分析,并总结我国KCNQ基因突变所致癫痫患儿的遗传学特点。方法选择2021年2月,于四川大学华西第二医院确诊的1例延迟在3个月龄癫痫发病的BFNE患儿(先证者)为研究对象。回顾性分析其临床表现、家系调查及基因检测结果等。以"KCNQ基因""癫痫"为中文关键词,以"KCNQ gene""seizures""epilepsy""convulsion"为英文关键词,对中国知网、万方数据知识服务平台(年限设定为上述数据库建库至今),以及Google Scholar、PubMed数据库(年限设定为2000年1月至2020年12月)进行检索,总结我国KCNQ基因突变癫痫患儿的遗传学特点。本研究遵循的程序符合2013年新修订的《世界医学协会赫尔辛基宣言》要求。与本例患儿监护人签署临床研究知情同意书。结果①本例患儿为3个月龄女婴,因"反复抽搐1 d"入院。其头颅MRI未见异常;脑电图结果提示多灶性癫痫波发放。调查本例患儿家系3代8人发现,先证者(本例患儿)及其父亲、祖父均发生婴儿期惊厥,非新生儿期发病,其父亲、祖父的BFNE均于1岁左右消失。对本例患儿经左乙拉西坦抗癫痫治疗至9个月龄后抽搐发作停止,随访至1岁1个月亦未再发。②本例患儿及其父亲、祖父基因检测结果显示,均存在KCNQ 2基因2号外显子存在c.373dupG(p.A125fs)杂合突变。与BFNE相关。③文献复习结果:根据本研究设定的检索策略,共检索到129篇国内关于KCNQ基因突变致癫痫发作的相关研究文献,纳入研究的中国患儿为129例,加上本例患儿共计130例。这130例患儿中,72例的起病年龄为0~28 d,56例为29 d至2岁,2例>2岁;KCNQ 2、3基因突变各为119例与11例;随访105例,51例患儿合并智力/发育障碍,其中KCNQ 2、3基因突变各为50例与1例,5例患者死亡,均为KCNQ 2基因突变,其余患儿智力/发育正常。本组130例KCNQ基因突变致癫Objective To explore the clinical features,lineage identification and gene mutation analysis of children with atypical benign familial neonatal epilepsy(BFNE),and to summarize the genetic characteristics of children with epilepsy caused by KCNQ gene mutation in China.Methods A case of BFNE who was diagnosed in West China Second University Hospital,Sichuan University in February 2021 was selected into this study for retrospective analysis of its clinical manifestations,lineage identifieation,genetic testing results and other clinical data.Taking"KCNQ gene""epilepsy""seizures""epilepsy""convulsion"as Chinese and English keywords,search CNKI,Wanfang Data Knowledge Service Platform(from database construction to nowadays),as well as Google Scholar and Pubmed database(from January 2000 to December 2020)to summarize genetic characteristics of KCNQ gene mutation-positive epilepsy patients in China.The procedure followed in this study met requirements of the Helsinki Declaration of the World Medical Association revised in 2013.Results①Clinical characteristics of this girl were as follows.This case was a 3-month-old girl who was admitted to hospital due to"recurrent convulsions for 1 d".Skull MRI results showed no abnormalities.Electroencephalogram results suggested multifocal epileptic wave release.Eight people from 3 generations of this lineage were investigated.In this case,the proband,his father and grandfather had convulsions in infancy,and the BFNE of his father and grandfather disappeared at 1 year old.This child was treated with levetiracetam for 9 months and followed up to 1 year and 1 month.The child did not have convulsions until now.②Genetic test results showed that c.373dupG(p.A125fs)heterozygous mutation was found in the second exon of KCNQ 2 gene in this case,which was associated with benign convulsion of neonates.c.373dupG(p.A125fs)heterozygous variation was also found in the second exon of KCNQ 2 gene in this case's father and grandfather.③Results of literature review were as follows.A total of 129 d

关 键 词：KCNQ 2钾通道 移码突变 抗惊厥药 基因检测 遗传突变 系谱 癫痫 正常新生儿 

分 类 号：R742.1[医药卫生—神经病学与精神病学]