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Article

Lafora disease

1 Sept 2016

Abstract excerpt

Lafora disease (LD) is an autosomal recessive progressive myoclonus epilepsy due to mutations in the EPM2A (laforin) and EPM2B (malin) genes, with no substantial genotype-phenotype differences between the two. Founder effects and recurrent mutations are common, and mostly isolated to specific ethnic groups and/or geographical locations. Pathologically, LD is characterized by distinctive polyglucosans, which are...

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Identifiers

PMID: 27702709
DOI: 10.1684/epd.2016.0842

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