title: Lafora progressive myoclonus epilepsy: disease course homogeneity in a genetic isolate.
abstract: Lafora epilepsy is characterized by starch formation in brain and skin and is diagnosed by skin biopsy or mutation detection. It has variable ages of onset (6-19 years) and death (18-32 years) even with the same mutation, likely due to extramutational factors. The authors identified 14 Lafora epilepsy patients in the genetic isolate of tribal Oman. The authors show that in this homogeneous environment and gene pool, the same mutation, EPM2B-c.468-469delAG, results in highly uniform ages of onset (14 years) and death (21 years). Biopsy, on the other hand, was not homogeneous (positive in 4/5 patients) and is, therefore, less sensitive than mutation testing.
authors.affiliation: Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto Canada.
authors.forename: Julie
authors.initials: J
authors.lastname: Turnbull
authors.forename: Santosh
authors.initials: S
authors.lastname: Kumar
authors.forename: Zhi-Ping
authors.initials: ZP
authors.lastname: Ren
authors.forename: Shanmugakonar
authors.initials: S
authors.lastname: Muralitharan
authors.forename: Taline
authors.initials: T
authors.lastname: Naranian
authors.forename: Cameron A
authors.initials: CA
authors.lastname: Ackerley
authors.forename: Berge A
authors.initials: BA
authors.lastname: Minassian
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D002352:Carrier Proteins / Q000235:genetics* / Q000378:metabolism; D003241:Consanguinity; D004252:DNA Mutational Analysis; D003643:Death; D006801:Humans; D020192:Lafora Disease / Q000208:ethnology / Q000235:genetics* / Q000401:mortality / Q000503:physiopathology; D009850:Oman; D044382:Population Groups / Q000235:genetics*; D012867:Skin / Q000378:metabolism; D044767:Ubiquitin-Protein Ligases
chemical_list: D002352:Carrier Proteins; C478960:NHLRC1 protein, human; D044767:Ubiquitin-Protein Ligases