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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease myoclonus epilepsy
Comorbidity C0004134|ataxia
Sentences 3
PubMedID- 23449775 Clinical presentation was remarkably similar with early onset ataxia (average 2 years of age), followed by myoclonic seizures at the average age of 6.5 years.
PubMedID- 20301774 Prickle1-related progressive myoclonus epilepsy with ataxia
PubMedID- 22936898 Among various types of inherited epilepsies different epilepsy syndromes, among them progressive myoclonus epilepsies with features of ataxia and neurodegeneration, are counted.

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