SynthesisEpileptic disorders : international epilepsy journal with videotape2026
Epilepsy characteristics in patients with muscle-eye-brain disease: A systematic review of electroclinical features.
Synthesis in Epileptic disorders : international epilepsy journal with videotape, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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Who cites it
1 citing paper in PubMed.
- Expanding the Genotypic Spectrum of POMGNT1-Related Muscle-Eye-Brain Disease: A Case Report.Molecular genetics & genomic medicine · 2026Article
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7 authors.
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Abstract
BACKGROUND AND
objectivesMuscle-Eye-Brain disease (MEB) is a dystroglycanopathy that belongs to the congenital muscular dystrophies. Central nervous system manifestations include congenital brain abnormalities, neurodevelopmental delay, and epilepsy, making it a rare but important cause of developmental and epileptic encephalopathy. This systematic review aims to explore all current literature data regarding clinical and electroencephalographic features of MEB cases with epilepsy. MATERIALS AND
methodsWe conducted a literature review of previously published cases of patients with MEB and epilepsy in the PubMed and Scopus databases in the English language, focusing on seizure semiology and electroencephalographic features.
resultsWe included 52 studies with 80 patients. The clinical spectrum of patients with MEB is broad, including hypotonia at birth, ocular symptoms, delay of motor milestones, and intellectual disability. Serum creatine kinase levels are significantly elevated (median value 1600 IU/L). POMGnT1 mutation is, by far, the most common mutation in MEB patients, reported in 38.8% of cases, followed by GMPPB (10%), FKTN, POMT2, or DPM2 mutations (less than 10%, respectively). Epilepsy is a common feature, with onset usually in the first 6 months of life. Absences are the most common seizure type (58.8% of patients), followed by generalized tonic-clonic (33.8%) and focal seizures (21.3%). Patients present with drug-resistant epilepsy in approximately one fourth of cases (21.3%). Electroencephalogram (EEG) shows focal or multifocal discharges in approximately half of the cases, with a predominance over frontal or temporal regions. Slow and disorganized EEG background activity is commonly observed in 92.9% of cases.
conclusionEpilepsy 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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