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.
Program in Genetics and Genomic Biology, Research Institute, The Hospital for Sick Children, Toronto, Canada.
E M
EM
Chan
S
S
Omer
M
M
Ahmed
L R
LR
Bridges
C
C
Bennett
S W
SW
Scherer
B A
BA
Minassian
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