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

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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Publication Details

Journal
Epileptic Disorders
Published
2026-03-07
DOI
https://doi.org/10.1002/epd2.70217
Primary Topic
Epilepsy research and treatment
Type
article
Field-Weighted Citation Impact
0.00
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article

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

Athar N. Malik, Stefania Kalampokini, Martha Spilioti, Evripidis Pityrigkas et al.
Epileptic Disorders
Epilepsy research and treatment
article

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

Athar N. Malik, Stefania Kalampokini, Martha Spilioti, Evripidis Pityrigkas, Vasiliki Poulidou, Eleni Liouta, Georgia Pepe
article en

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.

Epileptic Disorders
AHEPA University Hospital (GR), Athens Medical Center (GR)
Good health and well-being
Openalex Percentile: Top 38%
Epilepsy research and treatment
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Epilepsy characteristics in patients with muscle‐eye‐brain disease: A systematic review of electroclinical features — Athar N. Malik, Stefania Kalampokini, et al. · Epileptic Disorders (2026) | TGRS Research Map | TGRS