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Article

A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2).

Human molecular genetics - 1 Feb 1999

Serratosa J M, Gómez-Garre P, Gallardo M E, Anta B, de Bernabé D B, Lindhout D, Augustijn P B, Tassinari C A, Malafosse R M, Topcu M, Grid D, Dravet C, Berkovic S F, de Córdoba S R

Abstract excerpt

Progressive myoclonus epilepsy of the Lafora type or Lafora disease (EPM2; McKusick no. 254780) is an autosomal recessive disorder characterized by epilepsy, myoclonus, progressive neurological deterioration and glycogen-like intracellular inclusion bodies (Lafora bodies). A gene for EPM2 previously has been mapped to chromosome 6q23-q25 using linkage analysis and homozygosity mapping. Here we report the...

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Identifiers

PMID: 9931343
DOI: 10.1093/hmg/8.2.345

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

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A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2).PMID 9931343Read ↗

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

A PTG variant contributes to a milder phenotype in Lafora disease.Semantic proximity Read ↗

Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (<i>EPM2B</i>) on 6p22Semantic proximity Read ↗

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

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

Novel human pathological mutations. Gene symbol: EPM2A. Disease: Lafora progressive myoclonus epilepsy.Semantic proximity Read ↗

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 ↗

Identification and characterization of novel splice variants of the human EPM2A gene mutated in Lafora progressive myoclonus epilepsy.Semantic proximity Read ↗

A unique carbohydrate binding domain targets the lafora disease phosphatase to glycogen.Semantic proximity Read ↗

Early-onset Lafora body disease.Semantic proximity Read ↗

Pathogenesis of Lafora Disease: Transition of Soluble Glycogen to Insoluble PolyglucosanSemantic proximity Read ↗

Novel mutation of EPM2A causes progressive myoclonic epilepsy: a case report.Semantic proximity Read ↗

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