Results 251 to 260 of about 88,373 (350)

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

To the editors: SCN1A gain-of-function effects in Dravet syndrome: Insights into clinical phenotypes and therapeutic implications. [PDF]

Epilepsia Open
Müller-Wöhrstein P, Lerche H, Boßelmann CM.   +2 more
europepmc   +1 more source

Aetiopathogenesis of infantile epileptic spasms syndrome and mechanisms of action of adACTH/corticosteroids in children: A scoping review [PDF]

openalex   +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

Neurologist's Black Swan: Molecular Basis of Prenatal Seizures. [PDF]

Int J Mol Sci
Kustova AO, Medyanik AD, Anisimova PE, Tarabykin VS, Kondakova EV.   +4 more
europepmc   +1 more source

Electrographic screening for infantile epileptic spasms syndrome in a single sleep–wake cycle [PDF]

John A. Mason, Elizabeth Juarez‐Colunga, Kelly G. Knupp   +2 more
openalex   +1 more source

Distinct thalamic functional connectivity and volume patterns across focal epilepsies in children: A multimodal neuroimaging study

Epilepsia, EarlyView.
Abstract Objective The thalamus is a key hub in seizure propagation, and its nuclei are emerging targets for neuromodulation. However, the contributions of individual nuclei to epileptic networks remain unclear, particularly in children, who are less studied than adults.
Xiyu Feng, Aswin Chari, Maria H. Eriksson, Freya Prentice, Xiaosong He, Hua Xie, Leigh Sepeta, M. Zubair Tahir, Jonathan D. Clayden, Martin M. Tisdall, Torsten Baldeweg, Rory J. Piper   +11 more
wiley   +1 more source

Pitfalls in ICU EEG Interpretation: A Retrospective Case Series. [PDF]

Neurohospitalist
Acar A, Freund BE, Tatum WO, Feyissa AM.
europepmc   +1 more source

Electroencephalographic Findings after Eslicarbazepine Therapy in Focal Epileptic Syndrome Patients

, 2018
Gabriel Salazar, Marta Fragoso, Javier Codas   +2 more
openalex   +2 more sources

Inroads into epilepsy through high‐frequency oscillations: Achievements and benchmark areas for improvement

Epilepsia, EarlyView.
Abstract High‐frequency oscillations (HFOs) were discovered more than 20 years ago, and since then they have been studied intensively in the context of epilepsy. HFOs encompass a broad spectrum of oscillations, typically ranging from 80 Hz to several kHz, that include both normal and pathological oscillations, documented in people with epilepsy and ...
Christos Panagiotis Lisgaras, Birgit Frauscher, Jean Gotman, Julia Jacobs, Philippe Kahane, Richard J. Staba, Maeike Zijlmans   +6 more
wiley   +1 more source