Home Contact Sitemap

eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease progressive myoclonus epilepsy
Comorbidity C0004134|ataxia
Sentences 2
PubMedID- 22936898 Among various types of inherited epilepsies different epilepsy syndromes, among them progressive myoclonus epilepsies with features of ataxia and neurodegeneration, are counted.
PubMedID- 20301774 Prickle1-related progressive myoclonus epilepsy (pme) with ataxia is characterized by myoclonic seizures (lightning-like jerks), generalized convulsive seizures, varying degrees of neurologic decline especially manifest as ataxia, and normal intellectual abilities.

Page: 1