Results 41 to 50 of about 8,275 (187)

Serum NfL, GFAP, and p‐tau217 in adults with drug‐resistant epilepsy and intellectual disabilities: Signs of ongoing neural injury

Epilepsia, EarlyView.
Abstract Objective Adults with epilepsy and intellectual disabilities (IDs) may be at increased risk of dementia, but clinical evaluation is complex and use of conventional biomarkers is often considered too invasive. We explored abnormality of serum neurofilament light chain (NfL), glial fibrillary acidic protein (GFAP), and phosphorylated tau‐217 (p ...
Hadassa Kwetsie, Inge M. W. Verberk, Jans S. van Ool, Anneke J. J. Rampen, Rebecca Z. Rousset, Nicole I. Wolf, Dederieke A. M. Maes‐Festen, Clara D. M. van Karnebeek, Charlotte E. Teunissen, Erik Boot, Agnies M. van Eeghen   +10 more
wiley   +1 more source

CaMKIIβ insufficiency disrupts cortical networks, producing aberrant low‐gamma oscillations and seizure susceptibility

Epilepsia, EarlyView.
Abstract Objective Pathogenic variants in the calcium/calmodulin‐dependent protein kinase II B gene (CAMK2B) have been associated with neurodevelopmental disorders, including epilepsy, yet the mechanisms underlying cortical dysfunction remain largely unclear.
Hiroki Mutoh, Kazushi Aoto, Atsuo Fukuda, Hirotomo Saitsu   +3 more
wiley   +1 more source

Drug-resistant juvenile myoclonic epilepsy: Misdiagnosis of progressive myoclonus epilepsy

, 2019
Juvenile myoclonic epilepsy (JME) is a common epilepsy syndrome characterized by bilateral myoclonic and tonic-clonic seizures typically starting in adolescence and responding well to medication.
Klein, Karl Martin, Geburtig-Chiocchetti, Andreas, Rosenow, Felix, Krause, Kristina, Knake, Susanne, Reif, Philipp Sebastian, Martin, Sarah, Menzler, Katja, Lindlar, Silvia, Strzelczyk, Adam   +9 more
core   +1 more source

Epilepsia partialis continua as the presenting manifestation of Creutzfeldt–Jakob disease: A video‐polygraphic clinical vignette

Epileptic Disorders, EarlyView.
Roberta Cutellè, Angelo Pascarella, Ada Santoro, Vittoria Cianci, Anna Mammì, Giovanbattista Gaspare Tripodi, Caterina Prestandrea, Sara Gasparini, Edoardo Ferlazzo   +8 more
wiley   +1 more source

Compound heterozygous SLC12A5 variants expand the molecular and functional spectrum of KCC2‐developmental and epileptic encephalopathy

Epilepsia, EarlyView.
Overview of the multimodal experimental approach integrating clinical, genetic, in silico, and in vitro investigations. Clinical: Representative EEG recording setup and ictal traces from affected patients. Genetic: Pedigrees for Families A and B highlighting the inheritance of the four identified SLC12A5 variants (A1, A2, B1, B2).
Mira Hamze, Robyn Whitney, Dorothée Ville, Nathalie Villeneuve, Anna‐Maria Hartmann, Lisa Becker, Jens Hausmann, Jinwei Zhang, Cathy Brier, Lucie I. Pisella, Perrine Friedel, Audrey Labalme, Eudeline Alix, Nicolas Chatron, Damien Sanlaville, Sylvie Gory‐Fauré, Eric Denarier, Christophe Porcher, Gaetan Lesca, Igor Medina   +19 more
wiley   +1 more source

Early-Onset Progressive Myoclonic Epilepsy With Dystonia Mapping to 16pter-p13.3

, 2010
The authors present three patients from a consanguineous family afflicted with novel recessive myoclonic epilepsy characterized by very early onset and a steadily progressive course. The onset is in early infancy, and death occurs in the first decade. In
Sibel Aylin Ugur Iseri, Aslıhan Tolun, Nilgün Selç, UĞUR İŞERİ, Sibel Aylin, Nadire Duru, Selcuk, Nilgun, Duru, Nadire, TOLUN, ASLIHAN   +7 more
core   +1 more source

Clinical Vignette: A rare pericallosal lipoma presenting with Lennox–Gastaut syndrome and a remarkable response to valproic acid

Epileptic Disorders, EarlyView.
Rainier Mark Loidor L. Rapal, Hok Leong Chin, Douglas Nordli III   +2 more
wiley   +1 more source

Add‐on treatment with vinpocetine reduces seizure frequency and improves comorbidities in patients with loss‐of‐function γ‐aminobutyric acid type A receptor variants

Epilepsia, EarlyView.
Abstract Objective The semisynthetic compound vinpocetine has gained attention as a potential precision medicine for developmental and epileptic encephalopathies caused by loss‐of‐function (LoF) variants in γ‐aminobutyric acid type A (GABAA) receptor genes. As a positive allosteric modulator of GABAA receptors, case reports suggest that vinpocetine can
Cathrine E. Gjerulfsen, Vivian W. Y. Liao, Tomasz S. Mieszczanek, Anne V. Jakobsen, Elena Gardella, Kern Olofsson, Marina Nikanorova, Allan Bayat, Sebastian Ortiz, Sarah Weckhuysen, Cecilie Johannessen Landmark, Orrin Devinsky, Mary Chebib, Philip K. Ahring, Guido Rubboli, Rikke S. Møller   +15 more
wiley   +1 more source

Late-onset myoclonic epilepsy in Down’s syndrome (LOMEDS)

, 2001
The aim of this paper is to report a patient with late-onset myoclonic epilepsy in Down’s syndrome (LOMEDS) as a differential diagnosis of adult-onset progressive myoclonic epilepsies.
Rosenow, F., Oertel, W.H., Hamer, H.M., Möller, J.C.   +3 more
core   +1 more source

Are comorbid sleep disorders associated with higher risk for sudden unexpected death in epilepsy? Observations from a Canadian epilepsy clinic

Epilepsia, EarlyView.
Abstract Objective Pooled mortality is nearly three times higher in people with epilepsy (PWE). Approximately 80% of sudden unexpected death in epilepsy (SUDEP) events occur during sleep, and primary sleep disorders are prevalent in the general population and PWE.
Marion Lazaj, Ellen Lee, Tristan Derry, Helen Driver, Gavin P. Winston, Lysa Boissé Lomax, Ana Johnson, Garima Shukla   +7 more
wiley   +1 more source