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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.

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。

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