Progressive myoclonus epilepsy with polyglucosans (Lafora disease): evidence for a third locus.
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.
Chan
E M
EM
Program in Genetics and Genomic Biology, Research Institute, The Hospital for Sick Children, Toronto, Canada.
Omer
S
S
Ahmed
M
M
Bridges
L R
LR
Bennett
C
C
Scherer
S W
SW
Minassian
B A
BA
D000293:Adolescent; D000328:Adult; D002648:Child; D003241:Consanguinity; D004252:DNA Mutational Analysis; D005808:Genes, Recessive; D018740:Genetic Heterogeneity; D008040:Genetic Linkage; D006003:Glycogen / Q000378:metabolism; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D020192:Lafora Disease / Q000235:genetics*; D018895:Microsatellite Repeats; D010154:Pakistan / Q000208:ethnology; D010375:Pedigree
D006003:Glycogen