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ENProgressive Myoclonus Epilepsy (PME)
Alias:
Myoclonic Epilepsies, Progressive
Progressive Myoclonic Epilepsy
Unverricht-Lundborg Syndrome
Pme
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Progressive Myoclonus Epilepsy, also known as myoclonic epilepsies, progressive, is related to myoclonic epilepsy of unverricht and lundborg and progressive myoclonus epilepsy 6, and has symptoms including myoclonus and ataxia. An important gene associated with Progressive Myoclonus Epilepsy is EPM2A (EPM2A Glucan Phosphatase, Laforin), and among its related pathways/superpathways are Glycogen metabolism and Diseases of carbohydrate metabolism. The drugs Brivaracetam and gamma-Globulins have been mentioned in the context of this disorder. Affiliated tissues include globus pallidus and brain, and related phenotypes are muscle and adipose tissue
Related ID：
MESH：D020191
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