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Article

Late onset Lafora disease and novel EPM2A mutations: breaking paradigms.

Epilepsy research - 1 Nov 2014

Jara-Prado Aurelio, Ochoa Adriana, Alonso María Elisa, Lima Villeda Gabriel A, Fernández-Valverde Francisca, Ruano-Calderón Luis, Vargas-Cañas Steven, Durón Reyna M, Delgado-Escueta Antonio V, Martínez-Juárez Iris E

Abstract excerpt

Lafora disease (LD) is an autosomal recessive progressive myoclonus epilepsy with classic adolescent onset of stimuli sensitive seizures. Patients typically deteriorate rapidly with dementia, ataxia, vegetative failure and death by 25 years of age. LD is caused by homozygous mutations in EPM2A or EPM2B genes. We found four novel mutations in EPM2A - three in exon 4 (Q247X, H265R G279C) and one in exon 1 (Y86D) -...

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PMID: 25246353
DOI: 10.1016/j.eplepsyres.2014.08.017

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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