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, pat...
Topics
- Alternative Splicing
- Amino Acid Sequence
- Base Sequence
- Chromosome Mapping
- Chromosomes, Human, Pair 6
- Consensus Sequence
- Epilepsies, Myoclonic
- Female
- Genetic Linkage
- Genotype
- Humans
- Male
- Molecular Sequence Data