钠离子通道相关癫痫性脑病研究进展

Research progress on sodium channel-associated epileptic encephalopathy

癫痫性脑病(EE)是一组主要表现为慢性神经功能减退的疾病,部分或全部由癫痫发作所造成。EE早期诊断困难,且传统抗癫痫药往往疗效不佳。电压门控钠离子通道(VGSCs)基因与EE发生密切相关。文章叙述SCN 1A、SCN 2A、SCN 3A、SCN 8A、SCN1B等常见VGSCs基因相关EE基因型和临床表型的关系,并总结不同VGSCs基因相关EE的治疗和发病机制。

Epileptic encephalopathy(EE)is a group of diseases,mainly characterized by chronic damage of neurological function,which is partly or wholly caused by seizures.Early diagnosis for some EE children is difficult,and the efficacy of traditional antiepileptic drugs is often unsatisfying.With the development of the new generation of genetic diagnosis technology,especially the application of next-generation sequencing technology,it was found that voltage-gated sodium channel genes were closely related to EE.In this review,the genotype and clinical phenotypic relationship of SCN1A,SCN 2A,SCN 3A,SCN 8A,SCN1B-related EE were discussed,and the different treatment methods were summarized,aiming to explore the pathogenesis of EE and provide help for the genetic diagnosis and treatment of this disease.