Results 51 to 60 of about 8,171 (145)
Epilepsia, EarlyView.Abstract Objective Use of neuromodulation strategies targeting thalamic nuclei, including deep brain stimulation (DBS) and responsive neurostimulation (RNS), for treatment of pediatric drug‐resistant epilepsy (DRE) is increasing, despite limited evidence for efficacy and safety. We present the initial results from the Comparative Multicenter Evaluation
Samuel A. Tenhoeve +28 more
wiley +1 more source
Unverricht-Lundborg disease in an adult female patient: a clinical case
Неврология, нейропсихиатрия, психосоматика, 2018 We have considered it appropriate to publish this case due to the rarity of progressive myoclonus epilepsy; diagnostic difficulties, particularly in the early stages of the disease (the female patient has been long followed up for diagnosed juvenile ...
V. A. Karlov +9 more
doaj +1 more source
Epilepsia, EarlyView.Abstract Objective This study was undertaken to identify the incidence of respiratory tract infections (RTIs) in a large cohort of adult patients with status epilepticus (SE) and to characterize their associations with clinical features and outcome determinants.
Sebastian Berger +8 more
wiley +1 more source
Epilepsia, EarlyView.Abstract Objective A significant proportion of individuals with suspected genetic developmental and epileptic encephalopathies (DEEs) remain unsolved following whole genome sequencing (WGS). Here we describe biallelic RNU2‐2 variants causing a recently reported, severe, recessive DEE.
Olivia J. Henry +23 more
wiley +1 more source
Classifying seizures in practice: Testing the 2025 ILAE framework among clinicians in South Africa
Epilepsia, EarlyView.Abstract Objective The 2025 International League Against Epilepsy (ILAE) seizure classification introduced a basic version for nonspecialists, but its usability is untested. We evaluated whether a multidisciplinary frontline workforce in South Africa could apply it, how consistently, and whether performance improved after self‐directed exposure ...
Aayesha J. Soni +13 more
wiley +1 more source
Cystatin B Involvement in Synapse Physiology of Rodent Brains and Human Cerebral Organoids
Frontiers in Molecular Neuroscience, 2019 Cystatin B (CSTB) is a ubiquitous protein belonging to a superfamily of protease inhibitors. CSTB may play a critical role in brain physiology because its mutations cause progressive myoclonic epilepsy-1A (EPM1A), the most common form of progressive ...
Eduardo Penna +11 more
doaj +1 more source
Statin use and risk of remote seizure after first new onset status epilepticus
Epilepsia, EarlyView.Abstract Objective Preclinical evidence supports the role of statins as antiepileptogenic agents. In this study, we investigated the risk of remote unprovoked seizures (RS) according to the use of statin therapy in a cohort of first‐ever status epilepticus (SE) survivors. Methods Retrospective analysis was made of adult patients (age ≥ 14 years) with a
Niccolò Orlandi +12 more
wiley +1 more source
Inherited metabolic epilepsies–established diseases, new approaches
Epilepsia Open, EarlyView.Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley +1 more source
Epilepsy syndromes classification
Epilepsia Open, EarlyView.Abstract Epilepsy syndromes are distinct electroclinical entities which have been recently defined by the International League Against Epilepsy Nosology and Definitions Task Force. Each syndrome is associated with “a characteristic cluster of clinical and EEG features, often supported by specific etiologic findings”.
Elaine C. Wirrell +4 more
wiley +1 more source
Frontiers in NeuroscienceObjectiveBiallelic variants in KCTD7 have been associated with progressive myoclonic epilepsy (PME), a rare autosomal recessive disorder characterized by early-onset epilepsy, cognitive decline, myoclonus, and ataxia.MethodsWhole-exome sequencing was ...
Jingjing Song +10 more
doaj +1 more source