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 ?
For example, labs using just NGS for testing will miss large repeat expansions, like the dodecamer repeat expansion within the 5'-untranslated region of the cystatin B (CSTB) gene, which is responsible for the vast majority of the Unverricht-Lundborg type of progressive myoclonus epilepsy cases.
Unstable insertion in the 5' flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1.
Chansoria, "Hashimoto encephalopathy presenting as progressive myoclonus epilepsy syndrome," European Journal of Paediatric Neurology, vol.
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.
Long-term efficacy and safety of piracetam in the treatment of progressive myoclonus epilepsy.
Mutation spectrum and predicted function of laforin in Lafora's progressive myoclonus epilepsy.
Progressive myoclonus epilepsy with polyglucosan bodies: Lafora disease.
Abstract: Lafora's progressive myoclonus epilepsy and diagnosed cases in Costa Rica.
Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2B) on 6p22.
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.
A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2).

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