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Article

Loss of function of the cytoplasmic isoform of the protein laforin (EPM2A) causes Lafora progressive myoclonus epilepsy.

Human mutation - 1 Feb 2004

Ianzano Leonarda, Young Edwin J, Zhao Xiao C, Chan Elayne M, Rodriguez M T, Torrado Maria V, Scherer Stephen W, Minassian Berge A

Abstract excerpt

Lafora disease is the most severe teenage-onset progressive epilepsy, a unique form of glycogenosis with perikaryal accumulation of an abnormal form of glycogen, and a neurodegenerative disorder exhibiting an unusual generalized organellar disintegration. The disease is caused by mutations of the EPM2A gene, which encodes two isoforms of the laforin protein tyrosine phosphatase, having alternate carboxyl termini,...

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Identifiers

PMID: 14722920
DOI: 10.1002/humu.10306

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Loss of function of the cytoplasmic isoform of the protein laforin (EPM2A) causes Lafora progressive myoclonus epilepsy.PMID 14722920Read ↗

Modulation of functional properties of laforin phosphatase by alternative splicing reveals a novel mechanism for the EPM2A gene in Lafora progressive myoclonus epilepsy.Semantic proximity Read ↗

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Increased Endoplasmic Reticulum Stress and Decreased Proteasomal Function in Lafora Disease Models Lacking the Phosphatase LaforinSemantic proximity Read ↗

Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy.Semantic proximity Read ↗

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