Results 211 to 220 of about 113,968 (310)

Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants

Epilepsia, EarlyView.
Abstract Objective Pathogenic variants in γ‐aminobutyric acid type A (GABAA) receptor genes have been associated with a wide spectrum of neurological disorders. We aimed to delineate the clinical trajectories associated with gain‐of‐function (GoF) and loss‐of‐function (LoF) variants in GABRB2 and GABRB3, and to develop a risk‐prediction model for gross
Sebastian Ortiz, Leonardo Affronte, Chiara Bagliani, Serene El‐Kamand, Anthony Sze Hon Kan, Isabel T. Kristoffersen, Rebekka S. Dahl, Anne F. Højte, Stéphane Auvin, Arjan Bouman, Shimriet Zeidler, Gerhard Kluger, Gaetan Lesca, Nicolas Chatron, Zeynep Goke‐Samar, Maria T. Papadopoulou, Matthildi Athina Papathanasiou Terzi, Elise Schaefer, Anne de Saint Martin, Sarah Baer, Mohammed Al Owain, Saud Takroni, Hesham Al‐Dhalaan, Paolo Bonanni, Alessandra Rossi, Nicoletta Zanotta, Marina Trivisano, Nicola Specchio, Angela de Dominicis, Pasquale Striano, Alessandro Orsini, Maria Margherita Mancardi, Sebastian Neuens, Melanie Jennesson‐Lyver, Ira Benkel‐Herrenbrueck, David Genevieve, Richard Sidlow, Kamer Tezcan, Ilona Krey, Johannes R. Lemke, Konrad Platzer, Damien Lederer, Inga Talvik, Ulvi Vaher, Kees P. J. Braun, Anne‐Marie Guerrot, Rebecca More, Matthias De Wachter, Sarah Weckhuysen, Evelina Carapancea, Maria Roberta Cilio, Julia Jacobs, Katalin Sterbova, Simona Balestrini, Renzo Guerrini, Giulio Peroni, Inger‐Lise Mero, Walaa ElNaggar, Nour Elkhateeb, Ariane Schmetz, Denise L. Chan, Ghayda M. Mirzaa, Boris Chaumette, Adrien Legrand, Amy McTague, Tommy Stödberg, Rebekah V. Harris, Samuel F. Berkovic, Ingrid E. Scheffer, Mary Chebib, Elena Gardella, Philip K. Ahring, Nathan L. Absalom, Rikke S. Møller   +73 more
wiley   +1 more source

Cartography of Collapse: Mapping the Architecture of SUDEP. [PDF]

Epilepsy Curr
Zawar Md Ms-Cr I.
europepmc   +1 more source

Editorial: Sudden Unexpected Death in Epilepsy: Bio-markers, Mechanisms, Risk Identification and Prevention. [PDF]

, 2019
DeGiorgio, Christopher M., Sperling, Michael R., Surges, Rainer   +2 more
core   +1 more source

Seizure control after radiosurgical treatment in patients with cerebral arteriovenous malformations: An observational study

Epilepsia, EarlyView.
Abstract Objective Seizures are among the most common symptoms of cerebral arteriovenous malformations (AVMs). Although the main goal of AVM treatment remains complete obliteration, seizure control has become an important treatment aspect in recent years.
Philip Lederer, Muhammet Dogan, Dorian Hirschmann, Beate Kranawetter, Anna Cho, Philipp Goebl, Christian Dorfer, Brigitte Gatterbauer, Karl Rössler, Philippe Dodier, Wei‐Te Wang, Gerhard Bavinzski, Arthur Hosmann, Wolfgang Serles, Josa M. Frischer   +14 more
wiley   +1 more source

Genetic Risk Factors for Epilepsy: From Familial Studies to Gene Discoveries and Polygenic Risk Scores, Strides Toward Unlocking an Age-Old Question in Epilepsy. [PDF]

Epilepsy Curr
Yano ST, Phitsanuwong C.
europepmc   +1 more source

Mechanisms of SCN2A loss of function do not predict presence or phenotype of epilepsy

Epilepsia, EarlyView.
Abstract Objective SCN2A loss‐of‐function (LoF) variants are associated with epilepsy (onset age ≥ 3 months), intellectual disability (ID), and autism spectrum disorder (ASD). Despite numerous identified variants and the description of phenotypic subgroups, relationships between Nav1.2 channel dysfunction and clinical phenotypes remain unclear.
Marsha Tan, Beatrice Southby Goad, Meagan Allen, Jill Rodda, Kay L. Richards, Simone L. Ardern‐Holmes, Daniel Bamborschke, Daniel Fritzen, Inna Hughes, Kate Riney, Ana Roche Martinez, Angelo Russo, Adriane Sinclair, Stefano Sartori, Marina Trivisano, Angela De Dominicis, Nicola Specchio, Rikke S. Møller, Ingrid E. Scheffer, Walid Fazeli, Markus Wolff, Steven Petrou, Katherine B. Howell, Géza Berecki   +23 more
wiley   +1 more source

Sodium Valproate Versus Levetiracetam in Pediatric Generalized Epilepsy: A Comparative Study. [PDF]

Cureus
Mahajan I, Kumar P, Jain A, Bansal U, Singh V, Rathoria E.   +5 more
europepmc   +1 more source

Development and validation of a deep survival model to predict time to seizure from routine electroencephalography

Epilepsia, EarlyView.
Abstract Objective This study was undertaken to develop and validate a deep survival model (EEGSurvNet) that analyzes routine electroencephalography (EEG) to predict individual seizure risk over time, comparing its performance to traditional clinical predictors such as interictal epileptiform discharges (IEDs).
Émile Lemoine, An Qi Xu, Mezen Jemel, Frédéric Lesage, Dang K. Nguyen, Elie Bou Assi   +5 more
wiley   +1 more source