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

TL;DR

This paper reviews recent advances in treating epilepsy in patients with MERRF syndrome, a rare mitochondrial disorder.

Contribution

The paper provides an updated analysis of antiseizure medications and alternative treatments for epilepsy in MERRF.

Findings

Levetiracetam, benzodiazepines, and zonisamide show effectiveness in treating myoclonic epilepsy in MERRF.

Drug-resistant epilepsy may benefit from alternative treatment methods.

Close monitoring is essential as seizure types and frequency can change with disease progression.

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.