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
References in periodicals archive ?
Loss of function of the cytoplasmic isoform of the protein laforin (EPM2A) causes Lafora progressive myoclonus epilepsy.
Lafora progressive myoclonus epilepsy mutation database-EPM2A and NHLRC1 (EMP2B) genes.
Mutation spectrum and predicted function of laforin in Lafora's progressive myoclonus epilepsy.
His professional interests and accomplishments have spanned a number of genetic diseases including Down Syndrome, Hemochromatosis, Progressive Myoclonus Epilepsy, and Huntington Disease.
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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