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Noun

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

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References in periodicals archive

When should MERRF (myoclonus epilepsy associated with ragged-red fibers) be the diagnosis?

Antimyoclonic Effect of Levetiracetam and Clonazepam Combined Treatment on Myoclonic Epilepsy with Ragged-Red Fiber Syndrome with m.8344A>G Mutation

Huang et al., "Neuropharmacology of progressive myoclonus epilepsy: response to 5-hydroxyl-tryptophan," Epilepsia, vol.

Serotonin Reuptake Inhibitors in Obstructive Sleep Apnea: Associations in People with and without Epilepsy

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.

Improving the molecular diagnosis and treatment of epilepsy with complex genetic testing

Chansoria, "Hashimoto encephalopathy presenting as progressive myoclonus epilepsy syndrome," European Journal of Paediatric Neurology, vol.

Paroxysmal amnesia attacks due to Hashimoto's encephalopathy

Loss of function of the cytoplasmic isoform of the protein laforin (EPM2A) causes Lafora progressive myoclonus epilepsy. Hum Mutat 2004; 23: 170-176.

Mosaic ring chromosome 6 and clinical significance in resistant epilepsy

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.

The role of piracetam in treatment of sickle cell anemia

Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: Exon 1 mutations associate with an early-onset cognitive deficit subphenotype.

Medical and mental health complications of Lafora disease: a case report