Results 51 to 60 of about 6,069 (199)
Oligogenic inheritance in epilepsy: A systematic exome‐wide analysis
Epilepsia, EarlyView.Abstract Objective
Genetic factors contribute to the majority of epilepsies, but the exact genetic cause remains unknown in most patients. Incomplete penetrance and variable expressivity are frequent, and recent studies showed a burden of deleterious variants in epilepsy genes, suggesting a role for oligogenic inheritance.Sarah Duerinckx, Barbara Gravel, Julie Soblet, Benjamin Legros, Susana Ferrao Santos, Wim Van Paesschen, Estelle Rikir, Epi25 Collaborative, Siwei Chen, Zaid Afawi, Quratulain Zulfiqar Ali, Danielle M. Andrade, Mutluay Arslan, Simona Balestrini, Carmen Barba, Tobias Baumgartner, Betül Baykan, Nerses Bebek, Felicitas Becker, Caitlin A. Bennett, Ahmad Beydoun, Francesca Bisulli, Christian Bosselmann, S. Hande Caglayan, Laura Canafoglia, Barbara Castellotti, Francine Chassoux, I‐Jun Chou, Seo‐Kyung Chung, Patrick Cossette, Chantal Depondt, Orrin Devinsky, Dennis J. Dlugos, Viola Doccini, Colin A. Ellis, Thomas N. Ferraro, Lorenzo Ferri, Mark Fitzgerald, Francesco Fortunato, Elena Freri, Tania Giangregorio, Tracy A. Glauser, Aslı Gundogdu‐Eken, Namrata Gupta, Kevin Haas, Erin L. Heinzen, Christian Hengsbach, Olivia Hoeper, Michele Iacomino, Yushi Inoue, Lara Jehi, Symon M. Kariuki, Karl Martin Klein, Susanne Knake, Andreas Koupparis, Ioanna Kousiappa, Roland Krause, Martin Krenn, Heinz Krestel, Wolfram S. Kunz, Austin Lacey, Stephan Lauxmann, Stephanie L. Leech, Gaetan Lesca, David Lewis‐Smith, Calwing Liao, Laura Licchetta, Kuang‐Lin Lin, Tarja Linnankivi, Daniel H. Lowenstein, Colin H.T. Lui, Ida Manna, Paula Marques, Patrick May, Davide Mei, RaAaella Minardi, Barbara Mostacci, Lorenzo Muccioli, Bernd A. Neubauer, Terence J. O'Brien, Savvas S. Papacostas, Elena Parrini, Manuela Pendziwiat, Francesca Ragona, Mark I. Rees, Antonella Riva, Philippe Ryvlin, Andrea Salmon, Ilaria Sammarra, Marcello Scala, Ingrid E. ScheAer, Susanne Schubert‐Bast, Paolo Scudieri, Graeme J. Sills, Sanjay M. Sisodiya, Hannah Stamberger, Ulrich Stephani, Carlotta Stipa, Pasquale Striano, Adam Strzelczyk, Rainer Surges, Toshimitsu Suzuki, Mariagrazia Talarico, George A. Tanteles, Marian Todaro, Meng‐Han Tsai, Birute Tumiene, Dilsad Turkdogan, Luc Valton, Andreas van Baalen, Annalisa Vetro, Yvonne G. Weber, Sarah Weckhuysen, Peter Widdess‐Walsh, Samuel Wiebe, Randi von Wrede, Kazuhiro Yamakawa, Zuhal Yapıcı, Fritz Zimprich, Milena Zizovic, Gábor Zsurka, Benjamin M. Neale, Samuel F. Berkovic, Solve‐RD DITF‐EpiCARE, Marc Abramowicz, Nicholas Allen, Simona Balestrini, Tobias Bartolomaeus, Ravishankara Bellampalli, Katherine Benson, Francesca Bisulli, Christian Boßelmann, Susan Byrne, Laura Canafoglia, Evelina Carapancea, Barbara Castellotti, Gianpiero Cavalleri, Roberta Cilio, Norman Delanty, Christel Depienne, Chantal Depondt, Sarah Duerinckx, Zakaria Eddafir, Kornelia Ellwanger, Silvana Franceschetti, Elena Freri, Hamidah Ghani, Tiziana Granata, Marie Greally, Renzo Guerrini, Tobias B. Haack, Eva Hammar Bouveret, Michele Iacomino, Rami Jamra, Josua Kegele, Christian Korff, Roland Krause, Alma Küchler, Robert Lauerer‐Braun, Damien Lederer, Elsa Leitão, Holger Lerche, Gaëtan Lesca, David Lewis‐Smith, Laura Licchetta, Frédéric Masclaux, Patrick May, Davide Mei, Cyril Mignot, Charissa Millevert, Raffaella Minardi, Patrick Moloney, Hiltrud Muhle, Mary O. Reghan, Joohyun Park, Elena Parrini, Manuela Pendziwiat, Konrad Platzner, Johanna Pohl, Mary Sandrine, Marcello Scala, Sanjay Sisodiya, Noor Smal, Hannah Stamberger, Pasquale Striano, Roxane van Heurck, Christina Vosseler‐Wolf, David Webb, Sarah Weckhuysen, Federico Zara, Alec Aeby, Guillaume Smits, Chantal Depondt +192 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 sourceAn Unusual, Intermediate-Sized Lesion Affecting Motor Organization in a Patient With Schizencephaly: A Case Report
Frontiers in Human Neuroscience, 2020 Schizencephalies are abnormal clefts of the cerebral hemispheres that result from abnormal late neuronal migration and cortical organization.Sung-Woon Baik, Gi-Wook Kim, Gi-Wook Kim, Gi-Wook Kim, Myoung-Hwan Ko, Myoung-Hwan Ko, Myoung-Hwan Ko, Jeoung-Hwan Seo, Jeoung-Hwan Seo, Yu-Hui Won, Yu-Hui Won, Sung-Hee Park, Sung-Hee Park +12 moredoaj +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 sourceRepetitive clustered low‐voltage fast activity on intracranial electroencephalogram in mild malformation of cortical development with oligodendroglial hyperplasia and epilepsy: A candidate electroencephalographic biomarker study
Epilepsia, EarlyView.Abstract Objective
Mild malformation of cortical development with oligodendroglial hyperplasia and epilepsy (MOGHE) is a recently recognized cause of drug‐resistant focal epilepsy. It is often magnetic resonance imaging‐negative or radiologically resembles focal cortical dysplasias, which makes recognition difficult and limits presurgical counseling ...Vadym Gnatkovsky, Ekaterina Poguzhelskaya, Valeri Borger, Tobias Baumgartner, Rainer Surges, Kerstin Alexandra Klotz, Valentina Zschernack, Till Hartlieb, Manfred Kudernatsch, Ahmed Gaballa, Thomas Cloppenborg, Friedrich G. Woermann, Thilo Kalbhenn, Hajo Hamer, Stephanie Gollwitzer, Stefan Rampp, Daniel Delev, Florian Mayer, Karl Rössler, Valerie Anne Quinot, Angelika Mühlebner, Rafael Toledano, Antonio Gil‐Nagel, Roland Coras, Ingmar Blümcke, Katja Kobow +25 morewiley +1 more sourceInherited metabolic epilepsies–established diseases, new approaches
Epilepsia Open, EarlyView.Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.Itay Tokatly Latzer, Phillip L. Pearlwiley +1 more sourceGenotype-Phenotype Analysis Of Human Frontoparietal Polymicrogyria Syndromes
, 2005 Human cerebral cortical polymicrogyria is a heterogeneous disorder, with only one known gene (GPR56) associated with an apparently distinctive phenotype, termed bilateral frontoparietal polymicrogyria (BFPP).Guerrini, R, Sztriha, L, BenZeev, B, Dobyns, WB, Piao, XH, Woods, K, Barkovich, AJ, Goldberg-Stern, H, Walsh, CA, Bodell, A, Topcu, M, Chang, BS, Guerrini, Renzo +12 morecore +1 more source
