eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | gaucher disease |
| Comorbidity | C0014544|epilepsy |
| Sentences | 3 |
| PubMedID- 24671628 | Chronic neuronopathic type of gaucher's disease with progressive myoclonic epilepsy in the absence of visceromegaly and bone involvement. |
| PubMedID- 22569507 | We present the first reported case of a rapid clinical and electroencephalographic response to intravenous levetiracetam infusion of myoclonic status epilepticus in a patient with progressive myoclonus epilepsy due to gaucher disease. |
| PubMedID- 20004867 | gaucher disease patient with myoclonus epilepsy and a novel mutation. |
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