进行性肌阵挛癫痫相关治疗的研究进展  

Research progress on the related treatment of progressive myoclonic epilepsy

作　　者：党洋斌 梁宇欣 王天成[1] DANG Yangbin;LIANG Yuxin;WANG Tiancheng(Epilepsy Center,Department of Neurology,Lanzhou University Second Hospital,Lanzhou 730000,Gansu,China)

机构地区：[1]兰州大学第二医院神经内科癫痫中心,甘肃兰州730000

出　　处：《中国临床药理学与治疗学》2023年第10期1184-1194,共11页Chinese Journal of Clinical Pharmacology and Therapeutics

基　　金：甘肃省科技厅重点研发计划(21YF1FA171);兰州大学第二医院“萃英科技创新”计划项目(CY2019-MS13);2017年兰州大学第二医院“萃英研究生指导教师”培育计划项目(201701)。

摘　　要：进行性肌阵挛癫痫(PME)是一组临床上较为罕见、与遗传密切相关的癫痫综合征。该病主要是常染色体隐性遗传,少数为常染色体显性遗传或线粒体遗传,其共同临床特点为肌阵挛、多种癫痫发作类型和进行性神经功能及精神智能衰退。PME通常于儿童晚期或青春期起病,但可发生于任何年龄,在全世界儿童和青少年癫痫综合征中约占1%。近年来,除了以抗癫痫发作药物治疗外,涌现出许多非药物治疗,如饮食治疗、神经调控治疗、免疫调控治疗、酶替代治疗以及基因治疗等,本文将对PME的治疗进展进行综述。Progressive myoclonic epilepsy(PME)is a rare epileptic syndrome closely associated with genetic factors.The disease is primarily inherited in an autosomal recessive manner,although there are rare cases that demonstrate autosomal dominant or mitochondrial inheritance.Common clinical features include myoclonus,multiple seizure types,and progressive decline in neurological and cognitive function.PME typically manifests in late childhood or adolescence but can occur at any age.It accounts for approximately 1%of epileptic syndromes among children and adolescents worldwide.In recent years,in addition to antiseizure medications,numerous non-pharmacological treatments have emerged,including dietary therapy,neuromodulatory therapy,immunomodulatory therapy,enzyme replacement therapy,gene therapy,etc.This article aims to review the research progress in the treatment of PME.

关 键 词：进行性肌阵挛癫痫 抗癫痫发作药物 治疗 进展 

分 类 号：R745.1[医药卫生—神经病学与精神病学]