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Novel human pathological mutations. Gene symbol: EPM2A. Disease: Lafora progressive myoclonus epilepsy.

Human genetics - 1 Jun 2007

Trujillo-Tiebas M J, Fenollar-Cortés M, Gómez-Garré P, Lorda-Sánchez I, Serratosa J M, Ayuso García C

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PMID: 17879451

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Novel human pathological mutations. Gene symbol: EPM2A. Disease: Lafora progressive myoclonus epilepsy.PMID 17879451Read ↗

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Identification of a novel protein interacting with laforin, the epm2a progressive myoclonus epilepsy gene productSemantic proximity Read ↗

Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease.Semantic proximity Read ↗

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

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