Drug Treatment of Progressive Myoclonic Epilepsy. [PDF]
Paediatr Drugs, 2020 The progressive myoclonic epilepsies (PMEs) represent a rare but devastating group of syndromes characterized by epileptic myoclonus, typically action-induced seizures, neurological regression, medically refractory epilepsy, and a variety of other signs and symptoms depending on the specific syndrome.
Holmes GL.
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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 epilepsy with Fanconi syndrome. [PDF]
JRSM Open, 2016 This report illustrates the difficulties in diagnosing complex cases and demonstrates how whole exome sequencing can resolve complex phenotypes.
Seaby EG +5 more
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Deep brain stimulation in a patient with progressive myoclonic epilepsy and ataxia due to potassium channel mutation (MEAK). A case report and review of the literature [PDF]
Epilepsy and Behavior Reports, 2023 Angelika Stapińska-Syniec
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Genetic profile of progressive myoclonic epilepsy in Mali reveals novel findings [PDF]
Frontiers in NeurologySeybou H Diallo +2 more
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Long-term outcomes of two patients with progressive myoclonic epilepsy treated with vagus nerve stimulation therapy [PDF]
Heliyon, 2020 Ayataka Fujimoto +2 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
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Progressive myoclonic epilepsies
, 2021 Las epilepsias mioclónicas progresivas (EMP) son enfermedades neurodegenerativas infrecuentes, clínica y genéticamente heterogéneas, caracterizadas por presentar mioclonías de acción, crisis epilépticas y deterioro neurológico progresivo. Afectan principalmente a niños y adolescentes.
Vasquez-Baiocchi, Marco A. J. +1 more
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Degenerative Progressive Myoclonic Epilepsy Electrokymographic Observations [PDF]
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques, 1979 SummaryClinical and pathological findings in two cases of degenerative progressive myoclonic epilepsy (PME) are described. The clinically difficult task of differentiating a “cerebellar” tremor from an action myoclonus is emphasized. Simultaneous elect roencephalography and electrokymography was done, using capacity to ground transients for recording ...
I, Derakhshan, J, Lotfi, K, Abbsssioun
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Research progress on epilepsy with myoclonic absence
Acta EpileptologicaAbstract Epilepsy with myoclonic absence (EMA) is a rare childhood-onset generalized epilepsy syndrome characterized by myoclonic absence seizures. First discovered by Tassinari et al. in 1969, EMA has been extensively studied by researchers from all over the world. This review synthesizes recent studies on EMA, covering its discovery history,
Tang, Fen +4 more
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