Associated Papers
Axonal polyneuropathy in Lafora disease with a newly identified EPM2A mutation: a case report and review of literature.
Razmeh S et al.
Journal of Neurology, 2025
Prognostic value of pathogenic variants in Lafora Disease: systematic review and meta-analysis of patient-level data.
Pondrelli F et al.
Orphanet Journal of Rare Diseases, 2023
37658439 (PubMed )
Supplement: 13023_2023_2880_MOESM2_ESM.xlsx › STAB1_EPM2A
A novel deletion mutation in EPM2A underlies progressive myoclonic epilepsy (Lafora body disease) in a Pakistani family.
Orooj F et al.
Neurology Asia, 2021
Clinical and genetic studies in patients with Lafora disease from Pakistan.
Ahmad A et al.
Journal of the Neurological Sciences, 2017
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