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 ?
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.
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.