Article
[Myoclonic epilepsy of Lafora: a case report].
Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova - 1 Jan 2010
Rudenskaia G E, Zakharova E Iu, Karpin S L, Uchaev D A
Abstract excerpt
Myoclonic epilepsy of Lafora (EPM2) is a severe autosomal recessive disorder. The onset in adolescence, generalized seizures, severe myoclonus, dementia and a rapid malignant course with death in 4-8 years after the onset are characteristic features of EPM2. The disease has a specific pathological feature, intracellular polyglucosan inclusions (Lafora bodies) in the brain, liver, skin and muscles. Two genetic...
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