STXBP1基因相关癫痫临床表型及基因突变分析  

Clinical phenotypes and gene mutations analysis of STXBP1 gene-related epilepsy

作　　者：赵斯钰[1] 杨乐[1] 李桃利 吴岩 雷丽云[1] 王燕[1] ZHAO Siyu;YANG Le;LI Taoli;WU Yan;LEI Liyun;WANG Yan(Department of Neurology,Xi'an Children's Hospital,Shaanxi Xi'an 710003,China)

机构地区：[1]西安市儿童医院神经内科,陕西西安710003

出　　处：《中国妇幼健康研究》2022年第1期158-163,共6页Chinese Journal of Woman and Child Health Research

基　　金：陕西省社会发展科技攻关资助项目(2015SF214);西安科技局资助项目(J201903061)。

摘　　要：目的探讨STXBP1基因相关癫痫患儿临床及遗传学特征。方法分析2018年1月至2019年6月于西安市儿童医院确诊的STXBP1基因相关癫痫患儿的临床资料及基因突变情况,并结合相关文献进行总结。结果在4例STXBP1基因相关癫痫患儿中,新发突变3例:错义突变、拷贝数变异及剪切位点突变各1例;家系遗传1例,为错义突变。男女比例为3∶1,起病年龄为15天至2岁3个月(平均为5.1个月)。2例为非综合征性癫痫,2例为癫痫性脑病:Lennox-Gastaut综合征1例、未归类的早发性癫痫性脑病1例。2例婴儿期发病患儿虽经左乙拉西坦单药治疗发作快速控制,但随访中逐渐出现中至重度精神运动发育迟滞。结论 STXBP1基因相关癫痫临床表型复杂,治疗效果存在明显异质性。无论病情发作控制与否,均伴有不同程度智力障碍;部分患儿对左乙拉西坦有效,目前可作为STXBP1基因相关癫痫的首选初始药物。Objective To investigate the clinical and genetic characteristics of children with STXBP1 gene-related epilepsy.Methods Clinical data and gene mutation condition of children with STXBP1 gene-related epilepsy and diagnosed in Xi′an Children′s Hospital from January 2018 to June 2019 were analyzed and summarized in combination with relevant literature.Results In 4 patients with epilepsy associated with STXBP1 gene, there were 3 novel mutations, including missense mutation, copy number variation and splice site mutation, with one case for each mutation.One case of missense mutation was inherited from the family.The male to female ratio was 3∶1,and the onset age ranged from 15 days to 2 years and 3 months(average 5.1 months).Two cases were with non-syndromic epilepsy and two cases were with epileptic encephalopathy, including one case of Lennox-Gastaut syndrome and one case of unclassified early-onset epileptic encephalopathy.Although two children of STXBP1 gene-related epilepsy in infancy onset were rapidly controlled by levetiracetam monotherapy, moderate to severe psychomotor retardation gradually appeared during the follow-up.Conclusion The clinical phenotypes of epilepsy associated with STXBP1 gene are complex, and the therapeutic effect has obvious heterogeneity.Whether the seizure is controlled or not, it is accompanied by different degrees of neurodevelopmental disorder.Levetiracetam is effective in some patients and it is currently the first drug of choice for STXBP1 gene-associated epilepsy.

关 键 词：STXBP1基因 癫痫 癫痫性脑病 异质性 

分 类 号：R725[医药卫生—儿科]