Article
Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy.
Nature genetics - 1 Oct 1998
Minassian B A, Lee J R, Herbrick J A, Huizenga J, Soder S, Mungall A J, Dunham I, Gardner R, Fong C Y, Carpenter S, Jardim L, Satishchandra P, Andermann E, Snead O C, Lopes-Cendes I, Tsui L C, Delgado-Escueta A V, Rouleau G A, Scherer S W
Abstract excerpt
Lafora's disease (LD; OMIM 254780) is an autosomal recessive form of progressive myoclonus epilepsy characterized by seizures and cumulative neurological deterioration. Onset occurs during late childhood and usually results in death within ten years of the first symptoms. With few exceptions, patients follow a homogeneous clinical course despite the existence of genetic heterogeneity. Biopsy of various tissues,...
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