KCNQ2基因新发突变导致早发癫痫性脑病1例

Early-onset epilepsy encephalopathy caused by novel KCNQ2 mutation:1 case

为探讨KCNQ2基因突变与早发性癫痫脑病(EOEE)的关系,对收治的1例EOEE伴有KCNQ2基因突变患者的临床资料进行回顾性分析,并应用生物信息学软件对突变位点进行致病性分析。根据ACMG指南以及多种生物信息工具预测结果显示,KCNQ2基因新发错义突变(c.833T>C:p.I278T)可能是导致该患儿早发性癫痫脑病的致病因素。

Retrospective analysis was conducted on 1 admitted case with early-onset epilepsy encephalopathy(EOEE)accompanied with KCNQ2 gene mutation to explore the relationship between KCNQ2 gene mutation and EOEE.The pathogenicity of mutation sites was analyzed by bioinformatics software.According to the ACMG guide and prediction results of multiple bioinformatics tools,the de novo missense mutation(c.833T>C:p.I278T)of the KCNQ2 gene may be a pathogenic mutation of EOEE.