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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease ataxia
Comorbidity C0751778|progressive myoclonus epilepsy
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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.

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