• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

伴有破碎红纤维的肌阵挛性癫痫(MERRF)综合征相关癫痫的医学管理进展综述

A Review of the Advances in the Medical Management of Epilepsy Associated With Myoclonic Epilepsy With Ragged-Red Fibers (MERRF) Syndrome.

作者信息

Finsterer Josef

机构信息

Neurology Department, Neurology and Neurophysiology Center, Vienna, AUT.

出版信息

Cureus. 2025 Apr 23;17(4):e82875. doi: 10.7759/cureus.82875. eCollection 2025 Apr.

DOI:10.7759/cureus.82875
PMID:40416134
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12103643/
Abstract

Myoclonic epilepsy with ragged-red fibers (MERRF) syndrome is a rare syndromic mitochondrial disorder in which epilepsy is one of the main phenotypic features. Although myoclonic seizures are most common in MERRF, several other seizure types (e.g., focal and generalized seizures with motor or nonmotor onset) have been reported. The literature search was conducted via PubMed and Google Scholar and covered the years 1966-2024. The author analyzes recent advances in treating epilepsy in MERRF with antiseizure medications (ASMs). Also discussed are the treatment of status epilepticus and stroke-like episodes (SLEs), and alternative methods of treating epilepsy. Treatment of epilepsy in MERRF depends on the phenotype (classic MERRF, MERRF-plus, overlaps, and SLEs), degree of progression, seizure types, type of epilepsy, seizure frequency, and the presence/absence of status epilepticus. ASMs and non-ASMs with a potentially mitochondrial toxic effect, as shown by clinical and experimental studies, should be administered with caution. MERRF patients should be closely monitored for epilepsy as the disease progresses, as new types of seizures or an increase in seizure frequency and intensity may occur. Recent advances suggest that myoclonic epilepsy responds most effectively to levetiracetam, benzodiazepines, and possibly zonisamide. If epilepsy is drug-resistant, alternative measures should be considered, as some of them may be very effective.

摘要

肌阵挛性癫痫伴破碎红纤维(MERRF)综合征是一种罕见的综合征性线粒体疾病,癫痫是其主要表型特征之一。虽然肌阵挛发作在MERRF中最为常见,但也有报道称存在其他几种发作类型(例如,伴有运动或非运动发作的局灶性和全身性发作)。通过PubMed和谷歌学术进行文献检索,涵盖1966年至2024年。作者分析了使用抗癫痫药物(ASMs)治疗MERRF中癫痫的最新进展。还讨论了癫痫持续状态和类卒中发作(SLEs)的治疗以及治疗癫痫的替代方法。MERRF中癫痫的治疗取决于表型(经典MERRF、MERRF加型、重叠型和SLEs)、进展程度、发作类型、癫痫类型、发作频率以及是否存在癫痫持续状态。临床和实验研究表明,具有潜在线粒体毒性作用的ASMs和非ASMs应谨慎使用。随着疾病进展,应对MERRF患者的癫痫进行密切监测,因为可能会出现新型发作或发作频率及强度增加的情况。最新进展表明,肌阵挛性癫痫对左乙拉西坦、苯二氮䓬类药物以及可能的唑尼沙胺反应最为有效。如果癫痫耐药,应考虑采取替代措施,因为其中一些措施可能非常有效。

相似文献

1
A Review of the Advances in the Medical Management of Epilepsy Associated With Myoclonic Epilepsy With Ragged-Red Fibers (MERRF) Syndrome.伴有破碎红纤维的肌阵挛性癫痫(MERRF)综合征相关癫痫的医学管理进展综述
Cureus. 2025 Apr 23;17(4):e82875. doi: 10.7759/cureus.82875. eCollection 2025 Apr.
2
Management of epilepsy in MERRF syndrome.肌阵挛性癫痫伴破碎红纤维综合征(MERRF)的癫痫管理
Seizure. 2017 Aug;50:166-170. doi: 10.1016/j.seizure.2017.06.010. Epub 2017 Jun 24.
3
Pharmacotherapeutic management of epilepsy in MERRF syndrome.MERRF 综合征的癫痫药物治疗管理。
Expert Opin Pharmacother. 2019 Jul;20(10):1289-1297. doi: 10.1080/14656566.2019.1609941. Epub 2019 May 7.
4
[Clinical characteristics of children with MT-TK gene m.8344A>G variation].[MT-TK基因m.8344A>G变异儿童的临床特征]
Zhonghua Er Ke Za Zhi. 2024 Nov 2;62(11):1056-1063. doi: 10.3760/cma.j.cn112140-20240516-00337.
5
MERRF肌阵挛性癫痫伴破碎红纤维综合征
6
[Mitochondrial encephalopathy, lactic acidosis and stroke-like episodes / myoclonus epilepsy with ragged-red fibers /Leigh overlap syndrome caused by mitochondrial DNA 8344A>G mutation].[线粒体脑肌病、乳酸酸中毒和卒中样发作/肌阵挛性癫痫伴破碎红纤维/由线粒体DNA 8344A>G突变引起的 Leigh重叠综合征]
Beijing Da Xue Xue Bao Yi Xue Ban. 2020 Oct 18;52(5):851-855. doi: 10.19723/j.issn.1671-167X.2020.05.009.
7
Successful application of vagus nerve stimulation in super refractory status epilepticus associated with MERRF syndrome.迷走神经刺激在与肌阵挛性癫痫伴破碎红纤维综合征相关的超难治性癫痫持续状态中的成功应用。
Epilepsy Behav Rep. 2025 Apr 14;30:100769. doi: 10.1016/j.ebr.2025.100769. eCollection 2025 Jun.
8
Myoclonic Epilepsy and Ragged Red Fibers肌阵挛性癫痫伴破碎红纤维
9
When should MERRF (myoclonus epilepsy associated with ragged-red fibers) be the diagnosis?何时应诊断为肌阵挛性癫痫伴破碎红纤维综合征(MERRF)?
Arq Neuropsiquiatr. 2014 Oct;72(10):803-11. doi: 10.1590/0004-282x20140124.
10
A Novel Mutation of Mitochondrial T14709C Causes Myoclonic Epilepsy with Ragged Red Fibers Syndrome in a Chinese Patient.一个新的线粒体 T14709C 突变导致中国患者出现肌阵挛癫痫伴破碎红纤维综合征。
Chin Med J (Engl). 2018 Jul 5;131(13):1569-1574. doi: 10.4103/0366-6999.235120.

本文引用的文献

1
Global, regional, and national burden of epilepsy, 1990-2021: a systematic analysis for the Global Burden of Disease Study 2021.1990 - 2021年全球、区域和国家的癫痫负担:全球疾病负担研究2021的系统分析
Lancet Public Health. 2025 Mar;10(3):e203-e227. doi: 10.1016/S2468-2667(24)00302-5. Epub 2025 Feb 24.
2
POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic-atonic seizures and ataxia.POLR3B 与具有肌阵挛-猝倒发作和共济失调的发育性和癫痫性脑病有关。
Epilepsia. 2024 Nov;65(11):3303-3323. doi: 10.1111/epi.18115. Epub 2024 Sep 30.
3
[Progressive myoclonic epilepsy: a retrospective study of newly-diagnosed adult patients from a single center].[进行性肌阵挛癫痫:来自单一中心新诊断成年患者的回顾性研究]
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024 Apr 10;41(4):432-436. doi: 10.3760/cma.j.cn511374-20230214-00073.
4
Arginine for the Treatment of Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes: A Systematic Review.精氨酸治疗线粒体脑病、乳酸性酸中毒和卒中样发作:一项系统评价。
Cureus. 2022 Dec 19;14(12):e32709. doi: 10.7759/cureus.32709. eCollection 2022 Dec.
5
A Novel MTTK Gene Variant m.8315A>C as a Cause of MERRF Syndrome.一种新型 MTTK 基因变异 m.8315A>C 导致 MERRF 综合征。
Genes (Basel). 2022 Jul 14;13(7):1245. doi: 10.3390/genes13071245.
6
Perampanel for the treatment of patients with myoclonic seizures in clinical practice: Evidence from the PERMIT study.依维莫司在临床实践中治疗肌阵挛性癫痫患者的疗效:来自 PERMIT 研究的证据。
Seizure. 2022 Aug;100:56-66. doi: 10.1016/j.seizure.2022.06.008. Epub 2022 Jun 15.
7
Long-term outcomes of two patients with progressive myoclonic epilepsy treated with vagus nerve stimulation therapy.两名接受迷走神经刺激疗法治疗的进行性肌阵挛癫痫患者的长期预后
Heliyon. 2020 Oct 22;6(10):e05324. doi: 10.1016/j.heliyon.2020.e05324. eCollection 2020 Oct.
8
Emerging treatments for progressive myoclonus epilepsies.新兴治疗进行性肌阵挛性癫痫。
Expert Rev Neurother. 2020 Apr;20(4):341-350. doi: 10.1080/14737175.2020.1741350. Epub 2020 Mar 17.
9
Phenotype and genotype determine the diagnosis of MERRF or MERRF plus.表型和基因型决定了肌阵挛性癫痫伴破碎红纤维(MERRF)或MERRF综合征的诊断。
Eur Ann Otorhinolaryngol Head Neck Dis. 2020 May;137(3):241-242. doi: 10.1016/j.anorl.2018.12.003. Epub 2020 Feb 13.
10
Drug-Induced Mitochondrial Toxicity in the Geriatric Population: Challenges and Future Directions.老年人群中的药物诱导性线粒体毒性:挑战与未来方向
Biology (Basel). 2019 May 11;8(2):32. doi: 10.3390/biology8020032.