Article
Mutation spectrum and predicted function of laforin in Lafora's progressive myoclonus epilepsy.
Neurology - 8 Aug 2000
Minassian B A, Ianzano L, Meloche M, Andermann E, Rouleau G A, Delgado-Escueta A V, Scherer S W
Abstract excerpt
BACKGROUND: Lafora's disease is a progressive myoclonus epilepsy with pathognomonic inclusions (polyglucosan bodies) caused by mutations in the EPM2A gene. EPM2A codes for laforin, a protein with unknown function. Mutations have been reported in the last three of the gene's exons. To date, the first exon has not been determined conclusively. It has been predicted based on genomic DNA sequence analysis including...
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