Details

Autor(en) / Beteiligte

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

Titel

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

Ist Teil von

• Neurology, 2004-08, Vol.63 (3), p.565-567

Ort / Verlag

United States

Erscheinungsjahr

2004

Quelle

MEDLINE

Beschreibungen/Notizen

• 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.