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

E. M. Chan, S. Omer, M. Ahmed, L. R. Bridges, C. Bennett, S. W. Scherer, B. A. Minassian

Research output: Contribution to journalArticle

71 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)565-567
Number of pages3
JournalNeurology
Volume63
Issue number3
DOIs
StatePublished - Aug 10 2004

ASJC Scopus subject areas

  • Clinical Neurology

Fingerprint Dive into the research topics of 'Progressive myoclonus epilepsy with polyglucosans (Lafora disease): Evidence for a third locus'. Together they form a unique fingerprint.

  • Cite this