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Article

Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism.

Journal of molecular medicine (Berlin, Germany) - 1 Sept 2011

Couarch Philippe, Vernia Santiago, Gourfinkel-An Isabelle, Lesca Gaëtan, Gataullina Svetlana, Fedirko Estelle, Trouillard Oriane, Depienne Christel, Dulac Olivier, Steschenko Dominique, Leguern Eric, Sanz Pascual, Baulac Stéphanie

Abstract excerpt

Lafora disease is a fatal autosomal recessive form of progressive myoclonus epilepsy. Patients manifest myoclonus and tonic-clonic seizures, visual hallucinations, intellectual, and progressive neurologic deterioration beginning in adolescence. The two genes known to be involved in Lafora disease are EPM2A and NHLRC1 (EPM2B). The EPM2A gene encodes laforin, a dual-specificity protein phosphatase, and the NHLRC1...

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Identifiers

PMID: 21505799
DOI: 10.1007/s00109-011-0758-y
PMCID: PMC3154284

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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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