title: Genetic locus heterogeneity in Lafora's progressive myoclonus epilepsy.
abstract: In 1995, we mapped a gene for Lafora's progressive myoclonus epilepsy in chromosome 6q23-25. In 1997 and 1998, we reduced the size of the locus to 300 kb, and an international collaboration identified mutations in the protein tyrosine phosphatase gene. Here, we examine for heterogeneity through the admixture test in 22 families and estimate the proportion of linked families to be 75 to 85%. Extremely low posterior probabilities of linkage (Wi), exclusionary LOD scores, and haplotypes identify 4 families unlikely to be linked to chromosome 6q24.
authors.affiliation: Department of Neurology, University of California, Los Angeles School of Medicine, West Los Angeles DVA Medical Center, 90073, USA.
authors.forename: B A
authors.initials: BA
authors.lastname: Minassian
authors.forename: J
authors.initials: J
authors.lastname: Sainz
authors.forename: J M
authors.initials: JM
authors.lastname: Serratosa
authors.forename: M
authors.initials: M
authors.lastname: Gee
authors.forename: L M
authors.initials: LM
authors.lastname: Sakamoto
authors.forename: S
authors.initials: S
authors.lastname: Bohlega
authors.forename: G
authors.initials: G
authors.lastname: Geoffroy
authors.forename: C
authors.initials: C
authors.lastname: Barr
authors.forename: S W
authors.initials: SW
authors.lastname: Scherer
authors.forename: U
authors.initials: U
authors.lastname: Tomiyasu
authors.forename: S
authors.initials: S
authors.lastname: Carpenter
authors.forename: K
authors.initials: K
authors.lastname: Wigg
authors.forename: A V
authors.initials: AV
authors.lastname: Sanghvi
authors.forename: A V
authors.initials: AV
authors.lastname: Delgado-Escueta
mesh_terms: D002896:Chromosomes, Human, Pair 6 / Q000235:genetics; D004247:DNA / Q000235:genetics; D004831:Epilepsies, Myoclonic / Q000235:genetics*; D005260:Female; D018740:Genetic Heterogeneity; D008040:Genetic Linkage; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008126:Lod Score; D008297:Male; D008957:Models, Genetic; D010375:Pedigree