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- Title
Hotspot A putative E3 ubiquitin ligase is deficient in progressive myoclonus epilepsy.
- Authors
MacDonald, M. L. E.
- Abstract
The article discusses progressive myoclonus epilepsies (PMEs). PMEs comprise 1 % of epilepsies and are a heterogeneous group characterized by stimulus sensitive myoclonus, epilepsy and progressive detereoration. The progressive nature of PMEs makes them initially difficult to diagnose, but with the promise of future therapies rapid diagnosis will become crucial for minimization of central nervous system damage. Lafora disease is the most common cause of PME in countries of the Mediterranean basin, the Middle East, India, Pakistan, Malaysia, and Indonesia.
- Subjects
MALAYSIA; PAKISTAN; INDONESIA; EPILEPSY; CENTRAL nervous system diseases; MYOCLONUS
- Publication
Clinical Genetics, 2004, Vol 65, Issue 2, p90
- ISSN
0009-9163
- Publication type
Other
- DOI
10.1111/j.0009-9163.2004.0206c.x