不同类型KCNQ2基因突变所致癫痫五例临床分析

Clinical analysis of 5 cases of KCNQ2 gene mutation

目的探讨KCNQ2基因突变不同基因型与癫痫患儿临床表型之间的关系。方法分析2017年10月-2018年10月河北省儿童医院神经内科收治的5例KCNQ2基因突变相关性癫痫患儿,并查阅万方、中国知网(CNKI)、PubMed、Uptodate等数据库,结合相关文献进行总结。结果本研究共收集5例KCNQ2基因突变阳性患儿,其中自发突变3例:含错义突变2例,截短突变1例;家系遗传2例;错义突变、无义突变各1例。3例自发突变临床表型均为癫痫性脑病,家系遗传中1例为良性家族性新生儿癫痫。家系1同一位点突变呈现3种不同表型。结论①KCNQ2基因突变不仅可以引起良性家族性新生儿癫痫(BFNE),还可引起多种癫痫性脑病;②自发突变更可能导致癫痫性脑病;③同一家系携带同一基因突变位点成员也可能有不同表型。

Objective To explore the relationship between the mutant genotype and phenotype of KCNQ2 gene. Method From October 2017 to October 2018, 5 cases of KCNQ2 gene mutation children admitted to the Department of Neurology of Hebei Children's Hospital were collected and their clinical data were analyzed retrospectively. The data base of Wanfang, CNKI, PubMed, Uptodate and other databases were consulted and summarized in combination with relevant literature. Results Five KCNQ2 gene mutation positive children were collected in this study, including 3 spontaneous mutations, 2 missense mutations and 1 truncated mutation. There were 2 cases of pedigree inheritance, 1 case of missense mutation and 1 case of nonsense mutation. 3 cases were spontaneous mutation phenotypes, all of which were epileptic encephalopathy, and 1 case was benign familial neonatal epilepsy in family heredity. Mutations at the same locus in family 1 showed 3 different phenotypes. Conclusion ① KCNQ2 gene mutation can not only cause benign familial neonatal epilepsy ( BFNE ), but also cause a variety of epileptic encephalopathy;② Spontaneous mutation is more likely to lead to epileptic encephalopathy;③ Members of the same family carrying the same gene mutation site may also have different phenotypes.