Results 211 to 220 of about 106,832 (306)

Vagus nerve stimulation for treating refractory epilepsy with myoclonic seizures in children. [PDF]

Front Neurol
Geng G, Meng Y, Hu W, Qi F, Shi J.
europepmc   +1 more source

Memantine treatment in individuals with GRIN gain‐of‐function variants is associated with improvements in behavior, development, and seizure frequency

Epilepsia, EarlyView.
Abstract Objective GRIN‐related disorders due to pathogenic variants in GRIN1, GRIN2A, GRIN2B, or GRIN2D genes are associated with altered N‐methyl‐D‐aspartate receptor (NMDAR) function. Functional changes include gain (GoF) and loss of receptor function (LoF). Clinical reports describing the use of the NMDAR blocker memantine in GRIN‐related disorders
Maike Karnstedt, Riley E. Perszyk, Scott J. Myers, Ellington McDaniels, Marta Somorai, Ingo Borggraefe, Danielle C. M. Veenma, An‐Sofie Schoonjans, Pasquale Striano, Tadeu A. Fantaneanu, Steffen Syrbe, Kristen Park, Wenjuan Chen, Hongjie Yuan, Stephen F. Traynelis, Timothy A. Benke, Johannes R. Lemke, Ilona Krey   +17 more
wiley   +1 more source

When gene replacement becomes a double-edged sword: Guardrails for precision neurotherapeutics in Lafora disease. [PDF]

Neurotherapeutics
Riva A, Striano P.
europepmc   +1 more source

Optimal approach to standardized documentation in epilepsy clinics: A scoping review

Epilepsia, EarlyView.
Abstract Clear documentation and transfer of information between health care providers is key to ensuring the delivery of high‐quality patient care. Our aim was to determine how to optimize and standardize physician documentation in outpatient epilepsy clinics as well as to highlight challenges and barriers to their implementation.
Shahab Marzoughi, Maren Kimura, Bamby Joseph, Alina Zhao, Diane L. Lorenzetti, Dang K. Nguyen, Mark Keezer, Colin B. Josephson, Nathalie Jetté   +8 more
wiley   +1 more source

Unlocking the potential of multidisciplinary clinics to transform rare epilepsies care, insights, and research. [PDF]

Front Neurol
Bakhos C, Delagrammatikas CG, Demarest S, DeWoody Y, Dyer T, Miller IP, Moore A, Point AF, Rigby CS, Steinberg J, Vogel-Farley V, Wiltrout K.   +11 more
europepmc   +1 more source

Baseline characteristics and feasibility of clinical outcome measures in CDKL5 deficiency disorder: The CANDID observational study

Epilepsia, EarlyView.
Abstract Objective CDKL5 deficiency disorder (CDD) is a rare X‐linked developmental and epileptic encephalopathy caused by loss‐of‐function variants in the CDKL5 gene. Preclinical experiments using enzyme replacement or gene therapies show promise and could be transformative therapies.
Xavier Liogier d'Ardhuy, CANDID Partners, Tricia Cimms, Kristina Lindsten, Marco Rizzo, Alison Skrinar, Peter St. Wecker, Ana Mingorance, Orrin Devinsky   +8 more
wiley   +1 more source

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

Predicting the blood concentration of levetiracetam in people with epilepsy using machine learning and real-world data. [PDF]

Ther Adv Psychopharmacol
Zhu B, Zheng N, Chen D, Zhu Y.
europepmc   +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

Linking Cortical Morphometry in Self-Limited Epilepsy With Centrotemporal Spikes to Cognition, Function, and Molecular Architecture. [PDF]

CNS Neurosci Ther
Yang S, Xia J, Liao W, Zhou Y, Peng C, Wang J, Zhang Z.   +6 more
europepmc   +1 more source