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Neurology. 2004 Aug 10;63(3):565-7.

Progressive myoclonus epilepsy with polyglucosans (Lafora disease): evidence for a third locus.

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  • 1Program in Genetics and Genomic Biology, Research Institute, The Hospital for Sick Children, Toronto, Canada.


Lafora disease (LD) is the most common teenage-onset progressive myoclonus epilepsy. It is caused by recessive mutations in the EPM2A or EPM2B genes. The authors describe a family with three affected members with no mutations in either gene. Linkage and haplotype analyses exclude both loci from causative involvement in this family. Therefore, a third LD locus is predicted. Its identification will be a crucial element in the understanding of the biochemical pathway underlying the generation of Lafora bodies and LD.

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