MED12L基因新生突变导致儿童癫痫1例
A novel mutation of MED12L gene caused epilepsy in a child
薛璐瑶 1卢红茹 1李富威 2孙素真1
作者信息
- 1. 河北省儿童医院,河北石家庄 050031
- 2. 北京智因东方转化医学研究中心有限公司,北京 101111
- 折叠
摘要
目的 了解MED12L基因突变所致儿童癫痫的临床表型,完善儿童癫痫遗传性致病基因,并分析MED12L基因导致癫痫发作的机制.方法 对2023年6月在河北省儿童医院确诊的1例MED12L基因突变所致癫痫的病例进行回顾性分析.结果 患儿癫痫诊断明确,伴有轻度发育迟缓,MED12L基因变异为致病性,与患儿临床表型存在相关性.结论 MED12L基因突变可导致患儿癫痫发作,并伴有一定程度的发育障碍.
Abstract
Objective To investigate the clinical phenotype of pediatric epilepsy caused by MED12L gene mutation,enhance understanding of the genetic pathogenesis of pediatric epilepsy,and analyze the mechanism underlying MED12L gene-induced epilepsy.Methods A case of MED12L gene mutation induced epilepsy diagnosed in Hebei Children's Hospital in June 2023 was retrospectively analyzed.Results The diagnosis of epilepsy in the child was clear,accompanied by mild developmental delay,and the mutation of MED12L gene was pathogenic,which was correlated with the clinical phenotype of the child.Conclusion Mutations in the MED12L gene can cause epilepsy,which is accompanied by varying degrees of devel-opmental disabilities.
关键词
MED12L基因/癫痫/中介复合体/发育障碍/基因表达Key words
MED12L gene/epilepsy/intermediate complex/developmental disorde/gene expression引用本文复制引用
出版年
2024
NETL
NSTL
万方数据