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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
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.
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References in periodicals archive
Mutational spectrum of the EPM2A gene in progressive myoclonus epilepsy of Lafora: High degree of allelic heterogeneity and prevalence of deletions.
SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure.
Identification of a Novel Homozygous Splice-Site Mutation in SCARB2 that Causes Progressive Myoclonus Epilepsy with or without Renal Failure
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.
Unstable insertion in the 5' flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1.
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
Lafora progressive myoclonus epilepsy mutation database-EPM2A and NHLRC1 (EMP2B) genes.
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
Abstract: Lafora's progressive myoclonus epilepsy and diagnosed cases in Costa Rica.
Epilepsia mioclonica progresiva tipo Lafora y los casos diagnosticados en Costa Rica
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.
Epilepsy gene identified
Lafora progressive myoclonus epilepsy: Disease course homogeneity in a genetic isolate.
Lafora disease: a progressive myoclonic epilepsy/ Lafora hastaligi: ilerleyici bir miyoklonik epilepsi
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