Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy
Minassian, Berge A. ; Lee, Jeffrey R. ; Herbrick, Jo-Anne ; Huizenga, Jack ; Soder, Sylvia ; Mungall, Andrew J. ; Dunham, Ian ; Gardner, Rebecca ; Fong, Chung-yan G. ; Carpenter, Stirling ; Jardim, Laura ; Satishchandra, P. ; Andermann, Eva ; Snead, O. Carter ; Lopes-Cendes, Iscia ; Tsui, Lap-Chee ; Delgado-Escueta, Antonio V. ; Rouleau, Guy A. ; Scherer, Stephen W.
[s.l.] : Nature America Inc.
Published 1998
[s.l.] : Nature America Inc.
Published 1998
| ISSN: |
1546-1718
|
|---|---|
| Source: |
Nature Archives 1869 - 2009
|
| Topics: |
Biology
Medicine
|
| Notes: |
[Auszug] 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 symptoms1,2. With few exceptions, ...
|
| Type of Medium: |
Electronic Resource
|
| URL: |