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

肌阵挛性癫痫伴红纤维综合征(MERRF综合征)相关癫痫的药物治疗进展综述

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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.

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