Article
Advances in the genetics of progressive myoclonus epilepsy.
American journal of medical genetics - 1 Jan 2001
Delgado-Escueta A V, Ganesh S, Yamakawa K
Abstract excerpt
The genetic progressive myoclonus epilepsies (PMEs) are clinically characterized by the triad of stimulus sensitive myoclonus (segmental lightning like muscular jerks), epilepsy (grand mal and absences) and progressive neurologic deterioration (dementia, ataxia, and various neurologic signs depending on the cause). Etiologically heterogenous, PMEs are rare and mostly autosomal recessive disorders, with the...
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