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Article

Laforin and Malin Deletions in Mice Produce Similar Neurologic Impairments

6 Apr 2012

Abstract excerpt

Lafora disease is a progressive myoclonus epilepsy caused by mutations in the EPM2A gene encoding laforin or in the EPM2B gene encoding malin. It is characterized by the presence of polyglucosan intracellular inclusion bodies (Lafora bodies) in brain and other tissues. Targeted disruption of Epm2a or Epm2b genes in mice produced widespread neuronal degeneration and accumulation of Lafora bodies in neuronal and...

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PMID: 22487859
DOI: 10.1097/nen.0b013e318253350f

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