11例SCN2A基因变异相关癫痫患儿的临床及遗传学分析  

Clinical and genetic analyses of 11 children with epilepsy associated with SCN2A gene variations

作　　者：余西西 张新 杨莉[2] 邱世彦 李玉芬[2] 韩玉增 宋纪国[2] 徐那[2] 朱丽萍[2] Yu Xixi;Zhang Xin;Yang Li;Qiu Shiyan;Li Yufen;Han Yuzeng;Song Jiguo;Xu Na;Zhu Liping(School of Clinical Medicine,Shandong Second Medical University,Weifang 261053,China;Department of Pediatric Neurology,Linyi People's Hospital(Linyi Hospital Affiliated to Xuzhou Medical University),Linyi 276003,China)

机构地区：[1]山东第二医科大学临床医学院,潍坊261053 [2]临沂市人民医院(徐州医科大学附属临沂医院)小儿神经内科,临沂276003

出　　处：《中华神经医学杂志》2023年第12期1198-1205,共8页Chinese Journal of Neuromedicine

基　　金：徐州医科大学附属临沂医院科技发展基金(XYFY202220)。

摘　　要：目的总结SCN2A基因变异相关癫痫患儿的临床及遗传学特点。方法纳入临沂市人民医院小儿神经内科自2017年1月至2022年12月收治的11例癫痫患儿进入研究,所有患儿均出现致病性SCN2A基因突变。回顾性收集该11例患儿癫痫发作类型/频率、智力及运动发育情况等临床资料及基因检测结果,分析患儿SCN2A基因癫痫相关变异结果、致病性及其与临床表型间的关联。结果11例患儿中自限性癫痫6例(4例变异位于胞内结构域,2例变异位于跨膜区),热性惊厥伴儿童失神癫痫1例(变异位于胞内结构域),发育性癫痫性脑病4例(2例变异位于胞外结构域,2例变异位于跨膜区)。11例患儿SCN2A基因均为错义突变,其中6例患儿变异位点未见报道。视频脑电图放电形式多样,其中1例自限性癫痫患儿在发作频繁期呈一过性多灶性痫样放电。奥卡西平、托吡酯对自限性癫痫有效,拉莫三嗪对1例晚发型癫痫性脑病患儿有效。11例患儿随访(66±32)个月,末次随访年龄范围为8月龄~11岁6月龄,10例患儿发作缓解,1例发作未控制。结论SCN2A基因谱除与自限性癫痫和癫痫性脑病等常见表型相关外,尚与热性惊厥、儿童失神癫痫相关。临床表型的不同与突变所在位置关联,发育性癫痫性脑病相关变异多位于胞外结构域,自限性癫痫相关变异多位于胞内结构域。Objective To summarize the clinical and genetic characteristics of children with epilepsy associated with SCN2A gene variations.Methods A retrospective study was performed.Eleven children with epilepsy admitted to Department of Pediatric Neurology,Linyi People's Hospital from January 2017 to December 2022 were included;all of them had pathogenic SCN2A gene mutation.Genetic results and clinical data as epileptic seizure type/frequency,intelligence and motor development of these 11 children were collected.Epilepsy-related variations and pathogenesis of SCN2A gene were analyzed,and their correlations with clinical phenotypes in these children were analyzed.Results Among the 11 patients,6 had self-limited epilepsy(4 with variation in the intracellular domain and 2 in the transmembrane domain),1 had febrile convulsion accompanied by childhood absent epilepsy(with variation in the intracellular domain),and 4 had developmental epileptic encephalopathy(2 with variation in the extracellular domain and 2 with variation in the transmembrane domain).SCN2A gene was missense mutation in these 11 children,and the mutation site in 6 children was not reported before.Various forms of video EEG discharge were noted,and 1 child with self-limited epilepsy showed transient multifocal epileptic discharge during frequent seizures.Oxcarbazepine and topiramate were effective for self-limiting epilepsy,and lamotrigine was effective in 1 child with late-onset epileptic encephalopathy.Eleven patients were followed up for(66±32)months;the age ranged from 8 months to 11 years and 6 months at the last follow-up;10 patients had seizure remission and 1 had uncontrolled seizure.Conclusions Besides self-limited epilepsy and developmental epileptic encephalopathy,SCN2A gene mutations are also associated with febrile convulsion and childhood absent epilepsy.Phenotypic differences are highly correlated with mutation locations;developmental epileptic encephalopathy associated variants are mostly located in extracellular domains,while self-limited epil

关 键 词：SCN2A 癫痫 临床表型 基因谱 

分 类 号：R742.1[医药卫生—神经病学与精神病学]