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Article

Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (<i>EPM2B</i>) on 6p22

1 Sept 2003

Abstract excerpt

BACKGROUND: Lafora disease is a progressive myoclonus epilepsy with polyglucosan accumulations and a peculiar neurodegeneration with generalised organellar disintegration. It causes severe seizures, leading to dementia and eventually death in early adulthood. METHODS: One Lafora disease gene, EPM2A, has been identified on chromosome 6q24. Locus heterogeneity led us to search for a second gene using a genome wide...

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PMID: 12960212
DOI: 10.1136/jmg.40.9.671

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