关键词: 癫痫性脑病； 钠离子通道； 基因

Abstract: 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, SCN2A, SCN3A, SCN8A, SCN 1 B-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.

Key words: epileptic encephalopathy; sodium channel; gene