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 language | English (US) |
---|---|
Pages (from-to) | 565-567 |
Number of pages | 3 |
Journal | Neurology |
Volume | 63 |
Issue number | 3 |
DOIs | |
State | Published - Aug 10 2004 |
ASJC Scopus subject areas
- Clinical Neurology