CHRNA2基因突变致眼睑肌阵挛癫痫的1例报告及文献复习

A Case Report and Literature Review of Eyelid Myoclonus Epilepsy Caused by CHRNA2 Gene Mutation

摘要: 眼睑肌阵挛癫痫是以眼睑肌阵挛伴短暂失神或不伴失神为特征的癫痫综合征，其脑电特征为由于闭目和光敏感性导致的泛化性对称性电活动。而关于眼睑肌阵挛失神癫痫的致病基因突变的报道较少，我们首次报道了眼睑肌阵挛失神癫痫的CHRNA2基因突变并做文献复习，为临床上诊断和治疗该疾病提供参考。

Abstract: Eyelid myoclonus epilepsy is an epilepsy syndrome characterized by eyelid myoclonus with or without absence. Its EEG is characterized by generalized symmetrical electrical activity due to closed eyes and light sensitivity. However, there are few reports on the pathogenic gene mutation of eyelid myoclonic absence epilepsy. We first reported the CHRNA2 gene mutation of eyelid myoclonic absence epilepsy and reviewed the literature to provide reference for clinical diagnosis and treatment of the disease.