发育性癫痫性脑病的精准诊疗研究治疗进展  

Research Progress on Precise Diagnosis and Treatment of Developmental and Epileptic Encephalopathies

作　　者：杨涵 蒋莉[1] 

机构地区：[1]重庆医科大学附属儿童医院神经内科,国家儿童健康与疾病临床医学研究中心,儿童发育疾病研究教育部重点实验室,儿童神经发育与认知障碍重庆市重点实验室,重庆

出　　处：《临床医学进展》2025年第1期6-12,共7页Advances in Clinical Medicine

摘　　要：发育性癫痫性脑病(developmental and epilepsy encephalopathies, DEEs)是指起病于发育期,以精神运动发育迟缓或倒退为特征的一组癫痫性脑病综合征。DEEs病因及致病机制复杂,遗传因素占据主导地位。当前,病因驱动治疗已成为制定DEEs管理方案的核心,个别综合征亦有特定的药物适应症。本文综述了目前DEEs的遗传学病因及新型抗癫痫药物在DEEs中的应用前景。旨在优化治疗方案,强调个体化精准诊疗,为提高对这一罕见癫痫疾病的理解和管理提供理论支持。Developmental and epileptic encephalopathy (DEEs) refers to a group of epileptic encephalopathy syndromes that begin in the developmental period and are characterized by development delay or regression. The etiology and pathogenesis of DEEs are complex, with genetic factors dominating. Currently, etiology-driven treatment has become the core of DEEs management, and certain syndromes also have specific drug indications. This article reviews the current genetic etiology of DEEs and the prospects for applying novel antiepileptic drugs in DEEs. It aims to optimize treatment plans, emphasize individualized and precise diagnosis and treatment, and provide theoretical support for improving understanding and management of this rare epilepsy disease.

关 键 词：发育性癫痫性脑病 遗传学病因 药物治疗 精准治疗 

分 类 号：R74[医药卫生—神经病学与精神病学]