Results 81 to 90 of about 6,575 (206)

Genetic landscape of patients with atypical absence status epilepticus: A systematic review

Epilepsia Open, EarlyView.
Abstract Atypical absence status epilepticus (AASE) is a rare subtype of nonconvulsive status epilepticus (NCSE), characterized by clouding of consciousness and continuous or fluctuating epileptiform activity, generally at a frequency below 3 Hz. Only sparse literature exists on the genetic conditions associated with it.
Maria Cristina Cioclu, Giada Giovannini, Stefano Meletti   +2 more
wiley   +1 more source

Large Motor Unit Territories by Scanning Electromyography in Patients With Juvenile Myoclonic Epilepsy [PDF]

, 2010
Juvenile myoclonic epilepsy is a genetically inherited disorder characterized by myoclonic jerks and generalized seizures. It has been proposed that patients with juvenile myoclonic epilepsy have larger motor units (MUs) than normals by MU number ...
Baslo, Baris, ERTAŞ, Mustafa, Ulgen, Yekta, Goker, Imran   +3 more
core   +1 more source

Wu Type GRIA3 Mutation Associated X-Linked Syndromic Intellectual Developmental Disorder: A Case Report

National Board of Examinations Journal of Medical Sciences
Background: A Wu type X-linked syndromic intellectual developmental disorder is caused by mutations in the GRIA3 gene This disorder is characterised by autistic features, hyporeflexia, intellectual disability and facial dysmorphism.
A Priya Margaret, G D Sushintha Josh, Ramitha Enakshi Kumar S, Shanthi Ramesh   +3 more
doaj   +1 more source

Sustained seizure freedom with fenfluramine for refractory epilepsy due to 7q32‐q34 deletion syndrome

Epileptic Disorders, EarlyView.
Divya Veerapaneni, Abdulrahman Bukhari, Irfan S. Sheikh   +2 more
wiley   +1 more source

Progressive myoclonus epilepsy in Down syndrome with Alzheimer's disease: An 11‐year longitudinal study and proposed diagnostic red flags

Epilepsia Open, EarlyView.
Abstract Objective Individuals with Down syndrome (DS) face an ultra‐high risk of Alzheimer's disease (AD). Within this continuum, Progressive Myoclonus Epilepsy (PME) has emerged as a marker of advanced neurodegeneration. Building on our 2014 characterization of this syndrome, we aimed to define its long‐term natural history and pathological substrate.
Giuseppe d'Orsi, Ezio Calò, Maria Teresa Di Claudio, Carmela Pia Ferro, Umberto Costantino, Elio Perrone, Raffaela Rita Latino   +6 more
wiley   +1 more source

Update on pharmacotherapy of myoclonic seizures [PDF]

, 2017
Introduction: Myoclonic seizures are brief, involuntary muscular jerks arising from the central nervous system that can occur in different epilepsy syndromes, including idiopathic generalized epilepsies or the most severe group of epileptic ...
Belcastro V., Striano P.
core   +1 more source

A case of early onset subacute sclerosing panencephalitis presented as juvenile myoclonic epilepsy

Indian Journal of Psychological Medicine, 2017
A 7.5 years girl presented with myoclonic jerks with prolonged duration coming progressively at shorter intervals for last six moinths. There was declining academic performances.
Ranjan Bhattacharyya, Bhaskar Mukherjee, Sumita Bhattacharyya   +2 more
doaj   +1 more source

Effectiveness and safety of implantable vagus nerve stimulation in people with primary generalized tonic–clonic seizures

Epilepsia Open, EarlyView.
The impact of prompt diagnosis and treatment, and early predictors of outcome severity in this cohort. Abstract Objective Most therapies for drug‐resistant epilepsy (DRE) focus on focal‐onset seizures, the most common seizure types. Studying primary generalized tonic–clonic seizures (PGTCS) is more challenging due to diagnostic and recruitment ...
Katherine Eggleston, Justine Curley, Ryan Verner, Maxine Dibue, Charles Gordon, Gaia Giannicola, Kathryn Nichol   +6 more
wiley   +1 more source

Using spatio-temporal interest points (STIP) for myoclonic jerk detection in nocturnal video [PDF]

, 2012
In this study we introduce a method for detecting myoclonic jerks during the night with video. Using video instead of the traditional method of using EEG-electrodes, permits patients to sleep without any attached sensors. This improves the comfort during
Tuytelaars, Tinne, A. Van de Vel, Ceulemans, Berten, H. Aghajan, Aghajan, Hamid, K. Cuppens, B. Ceulemans, Cuppens, Kris, S. Van Huffel, Lagae, Lieven, Van Huffel, Sabine, Chih-Wei Chen, T. Tuytelaars, Wong, Kevin Bing-Yung, K. B-Y Wong, Chen, Chih-Wei, B. Vanrumste, Vanrumste, Bart, L. Lagae, Van de Vel, Anouk   +19 more
core   +1 more source

5‐HT2A receptor agonism by tert‐leucinamide and valinamide synthetic cannabinoids: In vitro and in vivo evidence

British Journal of Pharmacology, EarlyView.
Abstract Background and Purpose New synthetic cannabinoid receptor agonists (SCRAs) are associated with severe adverse effects, including unexpected psychiatric symptoms. These compounds are mainly active through their potent agonism on the cannabinoid receptors CB1 and CB2.
Giorgia Corli, Deborah Rudin, Dino Luethi, Matthias E. Liechti, Sabrine Bilel, Matteo Marti, Henrik Green, Manuela Carla Monti, Caitlyn Norman   +8 more
wiley   +1 more source