myoclonus epilepsy


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Related to myoclonus epilepsy: progressive myoclonus epilepsy
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Noun1.myoclonus epilepsy - epilepsy characterized by clonus of muscle groups and progressive mental deterioration and genetic origin
epilepsy - a disorder of the central nervous system characterized by loss of consciousness and convulsions
References in periodicals archive ?
Huang et al., "Neuropharmacology of progressive myoclonus epilepsy: response to 5-hydroxyl-tryptophan," Epilepsia, vol.
who show that Wharton's jelly mesenchymal stem cells (WJMSCs) are able to transfer healthy mitochondria to cybrid cells from a patient with myoclonus epilepsy associated with ragged-red fibers (MERRF) through intercellular connections.
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.
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. Hum Mutat 2004; 23: 170-176.
Piracetam relieves symptoms in progressive myoclonus epilepsy: a multicentre, randomised, double blind, crossover study comparing the efficacy and safety of three dosages of oral piracetam with placebo.
Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: Exon 1 mutations associate with an early-onset cognitive deficit subphenotype.