eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | gaucher disease |
| Symptom | C0027066|myoclonus |
| Sentences | 2 |
| PubMedID- 20004867 | The n188s mutation in gaucher disease is associated with myoclonus epilepsy. |
| 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. |
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