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This review aims to clarify the electroclinical features of epilepsy in patients with muscle-eye-brain disease (MEB).

March 10, 2026Epileptic Disorders0 citations

Epilepsy characteristics in patients with muscle‐eye‐brain disease: A systematic review of electroclinical features

SKStefania KalampokiniAHEPA University Hospital EPEvripidis PityrigkasAristotle University of Thessaloniki ELEleni LioutaAHEPA University Hospital

Key Points

This review aims to clarify the electroclinical features of epilepsy in patients with muscle-eye-brain disease (MEB).
Conducted a systematic review of existing literature on epilepsy in MEB.
Analyzed electroclinical features, seizure types, and EEG patterns in MEB patients.
Examined the relationship between the POMGnT1 mutation and epilepsy manifestations.
Epilepsy commonly occurs in MEB, with onset in the first months of life.
Absence seizures are the most frequently observed type.
EEG tests reveal slow and disorganized patterns, with focal or multifocal discharges.
The POMGnT1 mutation is prevalent among MEB patients experiencing epilepsy.

Abstract

Epilepsy is a common feature in MEB patients; its age of onset is usually in the first months of life, and it is often drug-resistant. It can manifest with all seizure types, with absences being the most common type. EEG shows focal or multifocal discharges with a slow and disorganized EEG background. The POMGnT1 mutation is the most common in MEB patients with epilepsy. A clear understanding of the electroclinical patterns in MEB patients can contribute to improved diagnostic precision and management.

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