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

作　　者：薛璐瑶 卢红茹 李富威 孙素真[1] XUE Luyao;LU Hongru;LI Fuwei;SUN Suzhen(Hebei Children’s Hospital,Shijiazhuang,Hebei 050031,China;Beijing Zhiyin Oriental Translational Medical Research Center,Beijing 101111,China)

机构地区：[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

出　　处：《中国优生与遗传杂志》2024年第8期1662-1666,共5页Chinese Journal of Birth Health & Heredity

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。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 developmental disabilities.

关 键 词：MED12L基因 癫痫 中介复合体 发育障碍 基因表达 

分 类 号：R742.1[医药卫生—神经病学与精神病学]