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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...

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Source

Identifiers

PMID: 14722920
DOI: 10.1002/humu.10306

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-14722920-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

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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 ↗

The phosphatase activity of laforin is dispensable to rescue Epm2a-/- mice from Lafora disease.Semantic proximity Read ↗

Mutation spectrum and predicted function of laforin in Lafora's progressive myoclonus epilepsy.Semantic proximity Read ↗

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Lafora disease in the Indian population: EPM2A and NHLRC1 gene mutations and their impact on subcellular localization of laforin and malin.Semantic proximity Read ↗

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Lafora progressive myoclonus epilepsy: Disease mechanism and therapeutic attempts.Semantic proximity Read ↗

Laforin, the most common protein mutated in Lafora disease, regulates autophagySemantic proximity Read ↗

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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