Results 11 to 20 of about 6,465 (257)
Juvenile myoclonic epilepsy [PDF]
BMJ, 2012 Diagnosed with epilepsy in her twenties, Nicola Morrison was told it was likely to be life long.
Morrison, Nicola +2 more
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CLINICAL AND GENETIC HETEROGENITY OF JUVENILE MYOCLONIC EPILEPSY
Эпилепсия и пароксизмальные состояния, 2016 The idiopathic generalized epilepsies constitute roughly one-third of all epilepsies. Juvenile myoclonic epilepsy (Janz syndrome) is characterized by myoclonic jerks on awakening, generalized tonic-clonic seizures, and typical absences, with the latter ...
N. A. Shnayder +4 more
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A survey of the European Reference Network EpiCARE on clinical practice for selected rare epilepsies
Epilepsia Open, 2021 Objective Clinical care of rare and complex epilepsies is challenging, because evidence‐based treatment guidelines are scarce, the experience of many physicians is limited, and interdisciplinary treatment of comorbidities is required. The pathomechanisms
Tobias Baumgartner +39 more
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Praxis-induced seizures in a patient with juvenile myoclonic epilepsy: MEG-EEG coregistration study
Epilepsy and Behavior Case Reports, 2016 Purpose: Juvenile myoclonic epilepsy (JME) is one of the most common generalized idiopathic epilepsies of childhood and adolescence. In some patients with JME, mathematical calculus and praxis may induce myoclonic seizures.
Sira Carrasco-García de León +5 more
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Annals of Indian Academy of Neurology, 2016 Cognitive decline and epilepsy are well recognized complication of Down syndrome (DS). Here, we intend to present a case of 28 year old male who presented with progressive mental regression, gait ataxia and myoclonic jerking especially on awakening in ...
Chandra Mohan Sharma +3 more
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Successful use of perampanel in GABRA1-related myoclonic epilepsy with photosensitivity
Epilepsy & Behavior Reports, 2022 Pathogenic variants in gamma-aminobutyric acid type A receptor subunit alpha1 (GABRA1) is a protein coding gene that has been associated with a broad phenotypic spectrum of epilepsies.
Sara Olivotto +8 more
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A patient with myoclonic epilepsy in infancy followed by myoclonic astatic epilepsy [PDF]
Seizure, 2012 Myoclonic epilepsy in infancy (MEI) is a primary generalized epilepsy. According to the literature, the outcome of MEI is usually benign. Here we report a patient who developed myoclonic astatic epilepsy at age four, having been seizure free without antiepileptic drug treatment for 2 years after his recovery from MEI. At age four, a video-EEG-recording
Auvin, Stéphane +3 more
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Hirayama disease with juvenile myoclonic epilepsy: A case report
Annals of Indian Academy of Neurology, 2014 Hirayama disease (HD) is rare, but benign anterior horn cell disease, predominantly affecting young men. One of the symptoms, besides weakness, is abnormal movement in the hand.
Jin-Sung Park +2 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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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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