Results 11 to 20 of about 2,837 (201)
Blink reflex in progressive myoclonic epilepsies [PDF]
Seizure, 2015 Progressive myoclonic epilepsies (PME) include a heterogeneous group of disorders. The brainstem is involved in these disorders, as demonstrated by neuroimaging and autopsy studies. The blink reflex (BR) is characteristically elicited after supraorbital electrical stimulation.
Coskun, Tulin +5 more
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Progressive myoclonic epilepsies [PDF]
Neurology, 2014 The progressive myoclonus epilepsies (PMEs) are a devastating group of rare disorders(1) that manifest with increasing action myoclonus, which is also present at rest but activates with stimuli such as noise, light, or touch. Ultimately, patients become wheelchair-bound and experience early death.
Kelly, Knupp, Elaine, Wirrell
core +7 more sources
Frontiers in Neurology, 2021 Introduction: Progressive myoclonic epilepsies (PMEs) are a heterogenous group of genetic diseases presenting with epilepsy, cognitive impairment, and severe action myoclonus, which can severely affect daily life activities and independent walking ...
Giovanni Assenza +11 more
doaj +2 more sources
A novel case report of spinal muscular atrophy with progressive myoclonic epilepsy from Iran
International Medical Case Reports Journal, 2019 Reza Shervin Badv,1 Yalda Nilipour,2 Shahram Rahimi-Dehgolan,3 Ali Rashidi-Nezhad,4 Masood Ghahvechi Akbari51Children’s Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences (TUMS), Tehran, Iran; 2Pediatric ...
Shervin Badv R +4 more
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Progressive myoclonic epilepsies.
Neurosciences (Riyadh, Saudi Arabia), 2012 J. Helen Cross
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Lafora Disease: A Case Report and Evolving Treatment Advancements
Brain Sciences, 2023 Lafora disease is a rare genetic disorder characterized by a disruption in glycogen metabolism. It manifests as progressive myoclonus epilepsy and cognitive decline during adolescence.
Carola Rita Ferrari Aggradi +13 more
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Analysis on clinical phenotype and gene mutation of progressive myoclonic epilepsy: one case report
Chinese Journal of Contemporary Neurology and Neurosurgery, 2018 Objective To investigate the features of clinical phenotype and gene mutation of progressive myoclonic epilepsy (PME). Methods and Results The main clinical features of a 43-year-old man were photosensitive seizures, progressive cerebellar ataxia and ...
Xing-wang SONG +3 more
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EPILEPSY IN INBORN ERRORS OF METABOLISM
Эпилепсия и пароксизмальные состояния, 2016 Epilepsy is a frequent and sometimes leading symptom in inborn errors of metabolism, especially in neonatal or infantile ones. Early myoclonic encephalopathy and myoclonus as a seizure type are the prototypes of epilepsy in inherited metabolic diseases ...
E. D. Belousova
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MRI characteristics due to gene mutations in a Chinese pedigree with Lafora disease
Molecular Genetics & Genomic Medicine, 2023 Background and Purpose Lafora disease (LD) is a very rare autosomal recessive disorder manifesting primarily as fatal, congenital, and neurodegenerative epilepsies.
Yueqian Sun +5 more
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Action Myoclonus and Renal Parenchymal Disease: A Case Report
Archives of Epilepsy, 2016 Progressive myoclonic epilepsies are a devastating group of rare disorders. The case of a young man who presented with a late-diagnosed nephrotic syndrome, progressive myoclonic seizures with action myoclonus, is described in the present report.
Kezban ASLAN +4 more
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