Results 11 to 20 of about 5,960 (193)
Zonisamide‐responsive myoclonus in SEMA6B‐associated progressive myoclonic epilepsy
Annals of Clinical and Translational Neurology, 2021 We present a female patient in her early twenties with global development delay, progressive ataxia, epilepsy, and myoclonus caused by a stop mutation in the SEMA6B gene.
Rebecca Herzog +7 more
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Progressive Myoclonus Epilepsies [PDF]
Seminars in Neurology, 2015 The progressive myoclonus epilepsies (PMEs) comprise a group of rare and heterogeneous disorders defined by the combination of action myoclonus, epileptic seizures, and progressive neurologic deterioration. Neurologic deterioration may include progressive cognitive decline, ataxia, neuropathy, and myopathy. The gene defects for the most common forms of
Kälviäinen Reetta, Kälviäinen Reetta
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Progressive myoclonic epilepsy due to rare mitochondrial ND6 mutation, m.14487T>C
BMJ Neurology Open, 2021 Introduction Mitochondrial diseases exhibit wide phenotypic heterogeneity, and can present as progressive myoclonic epilepsy.Summary We report a case of adult-onset drug-resistant epilepsy, cortical myoclonus and bilateral optic neuropathies due to m ...
Anthony Khoo +5 more
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The history of progressive myoclonus epilepsies [PDF]
Epileptic Disorders, 2016 AbstractThe history of the progressive myoclonus epilepsies (PMEs) spans more than a century. However, the recent history of PMEs begins with a consensus statement published in the wake of the Marseille PME workshop in 1989 (Marseille Consensus Group, ).
Genton, Pierre +2 more
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Progressive Myoclonus Epilepsy [PDF]
, 2020 Myoclonic epilepsy presenting in a cognitively normal adolescent is often related to juvenile myoclonic epilepsy. However, there are similar clinical features that suggest progressive myoclonus epilepsy. These include cognitive or motor regression, progressively worsening seizures, persistent slowing of the background on EEG, as well as family history ...
Katherine Nickels, William O. Tatum
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Stem Cell Research, 2020 Myoclonus Epilepsy and Ataxia due to Potassium channel mutation (MEAK) is a rare epilepsy caused by changes in the structure and function of potassium channels due to mutations in the potassium voltage-gated channel subfamily C member 1 (KCNC1) gene ...
Liu Nengqing +8 more
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Adult‐onset rapidly worsening progressive myoclonic epilepsy caused by a novel variant in DHDDS
Annals of Clinical and Translational Neurology, 2021 Progressive myoclonic epilepsy (PME) is a heterogeneous neurogenetic disorder manifesting as progressive myoclonus, seizure, and ataxia. We report a case of PME caused by a novel DHDDS variant. Additionally, by reviewing the literature on DHDDS mutations,
Seondeuk Kim +7 more
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Emerging treatments for progressive myoclonus epilepsies [PDF]
Expert Review of Neurotherapeutics, 2020 Introduction: Progressive myoclonus epilepsies (PMEs) are a group of neurodegenerative diseases, invariably leading to severe disability or fatal outcome in a few years or decades. Nowadays, PMEs treatment remains challenging with a significant burden of disability for patients. Pharmacotherapy is primarily used to treat seizures, which impact patients'
Riva A. +8 more
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Progressive Myoclonus Epilepsy (Lafora Type)
Pediatric Neurology Briefs, 1988 The diagnosis of Lafora's syndrome, progressive myoclonus epilepsy and intracytoplasmic periodic acid-Schiff-positive inclusions (Lafora bodies), was made by skin biopsy in a 16-year-old girl at the Depts of Pathology and Dermatology, University of Texas
J Gordon Millichap
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Epilepsy & Behavior Reports, 2023 Progressive myoclonic epilepsy (PME) is characterized by prominent myoclonus, generalized tonic-clonic seizures, and less often focal, tonic, or absence seizures.
Michał Sobstyl +5 more
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