发育性癫痫性脑病研究进展  

Research progress on developmental and epileptic encephalopathy

作　　者：牛雪阳 张月华[1] NIU Xueyang;ZHANG Yuehua(Department of Pediatrics,Peking University First Hospital,Beijing 100034,China)

机构地区：[1]北京大学第一医院儿科,北京100034

出　　处：《精准医学杂志》2024年第6期476-481,共6页Journal of Precision Medicine

基　　金：国家重点研发计划项目(2023YFC2706300,2023-YFC2706301)。

摘　　要：发育性癫痫性脑病(developmental and epileptic encephalopathy,DEE)是一组以耐药性癫痫和神经发育迟缓为特征的异质性疾病,可阻碍患儿大脑发育,导致严重的认知、行为和运动障碍。DEE患儿多数在婴幼儿期起病,主要由遗传因素导致,总体预后较差。本文对DEE的概念、相关癫痫综合征、遗传学病因以及精准治疗等方面的研究进行述评。Developmental and epileptic encephalopathy(DEE)is a group of heterogeneous disorders characterized by drug-resistant seizures and neurodevelopmental delay,which can hinder brain development and lead to severe cognitive,behavioral,and motor impairments.DEE is mainly driven by genetic factors,typically with an onset in infancy or early childhood and generally with an overall poor prognosis.This article provides a review of the definition,epilepsy syndromes,genetic etiology,and precision treatment of DEE.

关 键 词：神经发育障碍 癫痫综合征 遗传学 基因 治疗学 述评 

分 类 号：R742.1[医药卫生—神经病学与精神病学] R749.93[医药卫生—临床医学]