Results 101 to 110 of about 328,907 (297)
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 morewiley +1 more sourceFreedon study: Real‐life outcomes of cenobamate in different lines of treatment
Epilepsia, EarlyView.Abstract Objectives
Cenobamate is an antiseizure medication (ASM) with proven effectiveness in individuals with highly refractory epilepsy. This study investigated the effectiveness and tolerability of cenobamate in different treatment lines and a less refractory setting. Methods
This was a multicenter, retrospective, observational study.Vicente Villanueva, José María Serratosa, Alejandro Fernández‐Cabrera, Manuel Toledo, Beatriz González‐Giráldez, José C. Estevez, Juan Jesús Rodríguez Uranga, Maria Machio Castelló, Maria Dolores Castro‐Vilanova, Juan José Poza, Xiana Rodríguez‐Osorio, Kevin G. Hampel, Elena Fonseca, Francisco Javier López‐González, Mercedes Garcés, Laura Abraira, Jordi Ciurans, Daniel Campos‐Fernández, Estevo Santamarina, Juan María Sanchez‐Caro, Lucas Iacampo, Julia Renau, Miguel Ángel García‐Quesada, Carla Anciones, María Isabel Chamorro, Iratxe Maestro, Pablo Cabezudo, Raquel Calle, Jesús Macarron, Beatriz Cabezas, María Carrasco, María López, Marta Marín, Rosa Querol, Belén Baena, Vanessa García‐Morales, Samuel López‐Maza, Álvaro Juiz, Blanca Mercedes‐Alvarez, Carla Amarante, Ana del Villar, Ascensión Castillo, Marta Rubio‐Roy, Javier Martinez‐Poles, Asier Gómez‐Ibáñez, Beatriz Parejo‐Carbonell, Anabelén Martínez Garcia, Ignacio Carrera, Pablo Iriarte, Fátima Romero‐Aguilera, on behalf of the Pharmacological Therapy Working group of the Spanish Epilepsy Society and Freedon Group +50 morewiley +1 more sourceDistinct 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 morewiley +1 more sourceA systematic review on the assessment of pregnancy-specific psychological trauma during pregnancy: A call to action
AJOG Global ReportsObjective: Psychological trauma negatively impacts maternal and infant health during the perinatal period. A history of traumatic experiences related to previous pregnancies and births (termed pregnancy-specific psychological trauma or PSPT) increases ...Soudabeh Givrad, MD, Kathryn M. Wall, Lindsey Wallace Goldman, Jin Young Shin, Eloise H. Novak, Amanda Lowell, Francesca Penner, Michèle J. Day, Lea Papa, Drew Wright, Helena J.V. Rutherford +10 moredoaj +1 more sourceRhythms in longitudinal thalamic recordings are linked to seizure risk
Epilepsia, EarlyView.Abstract Objective
Seizure unpredictability remains a major clinical challenge for people with epilepsy. Previous works have shown that seizure risk is associated with circadian and multi‐day cycles in both brain and physiological signals. However, it remains unclear whether neural activity from deep brain structures such as the anterior nucleus of the Xinbing Zhang, Zachary T. Sanger, Thomas Lisko, Steffen Ventz, Robert A. McGovern, Theoden I. Netoff +5 morewiley +1 more sourceKCNJ4 variants disrupt inward‐rectifier potassium channel function and cause refractory epilepsy
Epilepsia, EarlyView.Abstract Objective
Epilepsy is a common neurological disorder with a strong genetic basis, most frequently arising from ion channel dysfunction. Although multiple inwardly rectifying potassium (Kir) channels have been implicated in epileptogenesis, the contribution of KCNJ4, which encodes the Kir2.3 channel, has not previously been established in human Hu Pan, Deng Liu, Wuhen Xu, Yang Li, Juanli Hu, Oppermann Henry, Alexander Fuchs, Rami Abou Jamra, Zhen Liu, Mei He, Yuanlu Chen, Shengnan Wu, Xiaohuan Dong, Yiqiao Chen, Pengchao Wang, Weiyue Gu, Han Jing, Yabing Tang, Ya‐Jie Wang, Xiao Mao, Neng Xiao +20 morewiley +1 more source
