Results 181 to 190 of about 2,936,182 (239)
Correlation of polygenic risk score and clinical phenotype in patients with genetic generalized epilepsy
Epilepsia, EarlyView.Abstract Objective
The polygenic risk score (PRS) for individuals with genetic generalized epilepsy (GGE) quantifies the common risk variants in genes identified in genome‐wide association studies. We hypothesized that the phenotype of GGE patients differs based on their GGE PRS. Methods
We identified participants with highest (n = 59) versus lowest (n Sophie von Brauchitsch, Nils Hartung, Robin A. Karge, Bobby Koeleman, Samuel F. Berkovic, Danielle M. Andrade, Francesca Bisulli, Antonio Gambardella, Renzo Guerrini, Ingrid E. Scheffer, Ingo Helbig, Wolfram S. Kunz, Holger Lerche, Hiltrud Muhle, Christian Boßelmann, Savvas S. Papacostas, Mark I. Rees, Sanjay M. Sisodiya, Pasquale Striano, Lynnette Sadleir, Yvonne Weber, Dennis Lal, Costin Leu, Philipp S. Reif, Stefan Wolking, Felix Rosenow, Karl Martin Klein, for the Epi25 Collaborative +27 morewiley +1 more sourceProgramming of deep brain stimulation of the centromedian nucleus of the thalamus for drug‐resistant epilepsy: A meta‐analysis and proposed programming framework
Epilepsia, EarlyView.Abstract Objective
Although the centromedian nucleus of the thalamus (CM) is an increasingly considered deep brain stimulation (DBS) target for drug‐resistant epilepsy (DRE), there is significant variability in programming practices, which may contribute to heterogenous outcomes.Mohammed A. AlQahtani, Michal Stern‐Zimmer, Puneet Jain, Suvasini Sharma, Alfonso Fasano, Alexander Rotenberg, George M. Ibrahim, Carolina Gorodetsky +7 morewiley +1 more sourceAutomated segmentation of postsurgical resection cavities on magnetic resonance imaging in focal epilepsy: A Multicentre Epilepsy Lesion Detection study
Epilepsia, EarlyView.Abstract Objective
Quantitative assessment of extent of tissue resection following epilepsy surgery requires accurate delineation of the resection cavity on postoperative magnetic resonance imaging (MRI). Current methods for resection cavity masking are time‐consuming and labor‐intensive, and existing automated approaches exhibit variable segmentation ...Jieun Seo, Mathilde Ripart, Helene Kaas, Cornelius Kronlage, Ben Sinclair, Lucy Vivash, Merran R. Courtney, Terence J. O'Brien, Siby Gopinath, Harilal Parasuram, Sedat Kandemirli, Natally Alarab, Lillian Lai, Marcus Likeman, Kai Zhang, Jiajie Mo, Georgian Ciobotaru, James Galea, Philip Sequeiros‐Peggs, Khalid Hamandi, Hua Xie, Venkata Sita Priyanka Illapani, William D. Gaillard, Nathan T. Cohen, Alexander G. Weil, Florence Henrichon‐Goulet, Kenza S. Lahlou, Aristides Hadjinicolaou, Agustín Ibáñez, Gonzalo M. Rojas‐Costa, Horst Urbach, Lara Bücheler, Marcel Heers, Adrián Valls Carbó, Rafael Toledano, Giulia Nobile, Costanza Parodi, Domenico Tortora, Alessandro Consales, Antonella Riva, Mariasavina Severino, Martin Tisdall, Felice D'Arco, Kshitij Mankad, Aswin Chari, Maria H. Eriksson, Rory J. Piper, J. Helen Cross, Torsten Baldeweg, Sofia González‐Ortiz, Jose Pariente, Nuria Bargalló, Yawu Liu, Reetta Kälviäinen, Carmen Barba, Matteo Lenge, Renzo Guerrini, Masaki Iwasaki, Daichi Sone, Hiroyuki Maki, Tomoki Imokawa, Noriko Sato, Julien Jung, Francisco Sepulveda, Daniel Mansilla, Andres Goycoolea, Ingeborg Lopez, Antonio Napolitano, Alessandro De Benedictis, Luca De Palma, Maria Camilla Rossi‐Espagnet, Nikolaos Kondylidis, Kostakis Gkiatis, Kyriakos Garganis, Joshua Pepper, Stefano Seri, John S. Duncan, Clarissa L. Yasuda, Lucas Scárdua‐Silva, Marina K. M. Alvim, Fernando Cendes, Antonio G. Gennari, Ruth O'Gorman Tuura, Georgia Ramantani, Mariam Josyula, Joel Stein, Nishant Sinha, Kate Davis, R. Edward Hogan, Luigi Maccotta, Sophie Adler, Konrad Wagstyl +91 morewiley +1 more sourceNucleus basalis functional connectivity aberrations in temporal lobe epilepsy and improvements after successful epilepsy surgery
Epilepsia, EarlyView.Abstract Objective
Resective surgery achieves seizure freedom in approximately 60%–80% of patients with drug‐resistant temporal lobe epilepsy (TLE), yet the extent to which seizure cessation permits recovery of disrupted functional brain networks remains unclear.Addison C. Cavender, Derek J. Doss, Ghassan S. Makhoul, Bruno Hidalgo Monroy Lerma, Anas Reda, C. Price Withers, Emily Liao, Kate Wang, Hernán F. J. González, Sarah E. Goodale, Graham W. Johnson, Laurie E. Cutting, Sarah K. Bick, Catie Chang, Victoria L. Morgan, Dario J. Englot +15 morewiley +1 more sourceTemperature homeostasis disruption and hypothalamic alterations in experimental drug‐resistant epilepsy
Epilepsia, EarlyView.Abstract Objective
Elevated body temperature may increase seizure risk, yet the relationship between thermoregulation and seizures, as well as the underlying mechanisms, remains poorly understood. We investigated whether thermoregulatory control is altered in experimental temporal lobe epilepsy (TLE), as such impairment could reduce the ability of ...Rossella Di Sapia, Akash Bera, Omar Mamad, James D. Mills, Benjamin Villasana‐Salazar, Giada Lavigna, Edoardo Micotti, Manuela Conticello, Asmin Alam, Roberto Chiesa, Francesca Pagani, Roberta Frapolli, Angelo M. Lavecchia, Christodoulos Xinaris, Eleonora Aronica, Andre Altmann, Teresa Ravizza, Sanjay M. Sisodiya, David C. Henshall, Annamaria Vezzani +19 morewiley +1 more sourceClimate‐related exposures and seizures in children: A systematic review
Epilepsia, EarlyView.Abstract Objective
Climate‐related exposures, including air pollution, temperature extremes, humidity, and atmospheric conditions, are increasingly recognized as potential seizure triggers. As climate change intensifies, understanding the environmental contributors to pediatric seizure risk has important implications for anticipatory guidance and ...Caroline Sarpy, Yoon Sik Jung, Carol Mita, Xingyan Wang, Phillip L. Pearl, Maitreyi Mazumdar +5 morewiley +1 more sourceFrequent cannabis use and the association with seizure burden in drug‐resistant epilepsy
Epilepsia, EarlyView.Abstract Objective
Cannabis use has increased substantially, with modern products characterized by high tetrahydrocannabinol concentrations and variable composition. The relationship between frequent cannabis use and epilepsy outcomes remains uncertain. We examined the association between frequent cannabis use and epilepsy severity, clinical phenotype, Santiago Philibert‐Rosas, Kaitlin A. Guston, Mariel Kalkach‐Aparicio, Abigail Keller, Sanaa Semia, Theodore Imhoff‐Smith, Cameron J. Brace, Steven E. Haworth, Felipe Branco de Paiva, Dace Almane, Jonathan Williams, Anne Josiah, Bradley Nix, Bruce P. Hermann, Nagesh Adluru, Jana E. Jones, Aaron F. Struck +16 morewiley +1 more sourceHow should etiology change the classification of the epilepsies? Report from the ILAE 2021–2025 Terminology Commission
Epilepsia, EarlyView.Abstract
The classification of the epilepsies has traditionally relied on clinical and electroencephalographic features. However, advancements in molecular genetics, neuroimaging, and our understanding of epilepsy pathophysiology necessitate a shift toward an etiology‐based approach.Nicola Specchio, Stéphane Auvin, Francesca Bisulli, Scott Demarest, Elena Gardella, Angelina Kakooza Mwesige, Rima Nabbout, Alshimaa S. Othman, Kollencheri Puthenveettil Vinayan, Robyn Whitney, Elaine Wirrell, Hideo Yamanouchi, Ji Yeoun Yoo, Sameer M. Zuberi, J. Helen Cross, Ingrid E. Scheffer +15 morewiley +1 more sourcePhenotypic and transcriptomic characterization of biallelic RNU2‐2 developmental and epileptic encephalopathy
Epilepsia, EarlyView.Abstract Objective
A significant proportion of individuals with suspected genetic developmental and epileptic encephalopathies (DEEs) remain unsolved following whole genome sequencing (WGS). Here we describe biallelic RNU2‐2 variants causing a recently reported, severe, recessive DEE.Olivia J. Henry, Nadja Pekkola Pacheco, Irene Duba, Magnus Burstedt, Daniel Carlberg, Angelica M. Delgado‐Vega, Anna Hammarsjö, Sofie Ivarsson, Tord Jonson, Kristina Karrman, Nicole Lesko, Åsa Lindfors, Daniel Nilsson, Mia Olsson Engman, Lucía Peña‐Pérez, Erik Stenund, Fulya Taylan, Malin Ueberschär, Samuel Wiafe, Sofia Ygberg, Anna Lindstrand, Anna Wedell, Ann Nordgren, Tommy Stödberg +23 morewiley +1 more source