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progressive myoclonus epilepsy

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progressive myoclonus epilepsy
Neurology A heterogeneous group of disorders that share clinical features, and thus generically termed PME syndrome Clinical Prominent sensitivity of myoclonus to all stimuli–eg, passive movement of a limb might evoke a generalized convulsions Etiology Unverricht-Lundborg's disease, Lafora body disease, neuronal ceroid lipofuscinosis–late infantile, juvenile, and adult types, sialidosis–types I/II, and MERRF–mitochondrial encephalopathy; rare causes of PME include Gaucher disease, GM2 gangliosidosis, biotin-responsive encephalopathy, Hallervorden-Spatz disease, Ekbom syndrome, May-White syndrome


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Antonarakis reviewed the current status of research in the disease progressive myoclonus epilepsy, caused by a dodecamer repeat (CCCCGCCCCGCG) in the cystatin B gene.
Pennacchio of the Stanford University School of Medicine and their colleagues in Finland knew from previous work that the gene for progressive myoclonus epilepsy resides on chromosome 21.
 
 
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