Results 41 to 50 of about 1,856,030 (259)

Multi-gene panel testing in Korean patients with common genetic generalized epilepsy syndromes.

PLoS ONE, 2018
Genetic heterogeneity of common genetic generalized epilepsy syndromes is frequently considered. The present study conducted a focused analysis of potential candidate or susceptibility genes for common genetic generalized epilepsy syndromes using multi ...
Cha Gon Lee, Jeehun Lee, Munhyang Lee
doaj   +1 more source

Clinical Outcomes of SEEG‐Guided Radiofrequency Thermocoagulation in Children With Focal Drug‐Resistant Epilepsy: A Multicenter Real‐World Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Stereoelectroencephalography‐guided radiofrequency thermocoagulation (SEEG‐RFTC) has emerged as a safe and effective minimally invasive treatment for children with drug‐resistant focal epilepsy. Although evidence from real‐world studies remains limited, numerous pediatric cases have demonstrated promising outcomes. This retrospective
Weitao Chen, Stéphane Jean, Weihong Liu, Yihai Dai, Xinrong Fang, Xiaoqiang Wei, Shan Chen, Shiwei Song   +7 more
wiley   +1 more source

Perampanel in routine clinical use in idiopathic generalized epilepsy: The 12‐month GENERAL study

Epilepsia, 2018
To analyze the effectiveness and tolerability of perampanel across different seizure types in routine clinical care of patients with idiopathic generalized epilepsy (IGE).
V. Villanueva, J. Montoya, A. Castillo, J. A. Mauri-Llerda, P. Giner, F. López-González, A. Piera, P. Villanueva-Hernández, Vicente Bertol, Alejandro García-Escrivá, J. García-Peñas, Í. Garamendi, P. Esteve-Belloch, J. J. Baiges-Octavio, Júlia Miró, M. Falip, M. Garcés, Asier Gómez, F. Gil-López, M. Carreño, J. Rodríguez-Uranga, D. Campos, Macarena Bonet, R. Querol, A. Molins, D. Tortosa, J. Salas-Puig   +26 more
semanticscholar   +1 more source

Effectiveness of rTMS on Working Memory and Inhibitory Impairments in Patients With Post‐Stroke Executive Deficits

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Considerable efforts have been dedicated to developing effective treatments for post‐stroke executive impairment (PSEI), among which repetitive transcranial magnetic stimulation (rTMS) has shown great potential. This study aimed to investigate the therapeutic effects of high‐frequency rTMS on working memory (WM) and response ...
Mengting Lao, Rongwei Du, Zhujun Wang, Yang Gao, Meiling Cheng, Xianglong Wang, Wen Wu   +6 more
wiley   +1 more source

Unmasking of myoclonus by lacosamide in generalized epilepsy

Epilepsy and Behavior Case Reports, 2017
Lacosamide is a new-generation antiseizure medication that is approved for use as an adjunctive treatment and monotherapy in focal epilepsy. Its use in generalized epilepsy, however, has not been adequately evaluated in controlled trials.
Daniel Birnbaum, Mohamad Koubeissi
doaj   +1 more source

γ‐Aminobutyric acid receptor alpha 1 subunit loss of function causes genetic generalized epilepsy by impairing inhibitory network neurodevelopment

Epilepsia, 2018
In humans, mutations of the γ‐aminobutyric acid receptor subunit 1 (GABRA1) cause either mild or severe generalized epilepsy. Although these epilepsy‐causing mutations have been shown to disrupt the receptor activity in vitro, their in vivo consequences ...
É. Samarut, Amrutha Swaminathan, Raphaëlle Riché, Meijiang Liao, Rahma Hassan-Abdi, S. Renault, Marc Allard, L. Dufour, P. Cossette, N. Soussi-Yanicostas, P. Drapeau   +10 more
semanticscholar   +1 more source

GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture

Nature Genetics, 2023
Epilepsy is a highly heritable disorder affecting over 50 million people worldwide, of which about one-third are resistant to current treatments. Here we report a multi-ancestry genome-wide association study including 29,944 cases, stratified into three ...
R. Stevelink, C. Campbell, Siwei Chen, B. Abou-Khalil, Oluyomi Adesoji, Z. Afawi, Elisabetta Amadori, Alison Anderson, Joseph Anderson, D. Andrade, G. Annesi, P. Auce, Andreja Avbersek, M. Bahlo, M. Baker, G. Balagura, S. Balestrini, C. Barba, Karen Barboza, F. Bartolomei, T. Bast, L. Baum, Tobias Baumgartner, B. Baykan, N. Bebek, Albert J. Becker, F. Becker, C. A. Bennett, B. Berghuis, S. Berkovic, A. Beydoun, C. Bianchini, F. Bisulli, I. Blatt, D. Bobbili, I. Borggraefe, C. Boßelmann, V. Braatz, J. Bradfield, K. Brockmann, L. Brody, R. Buono, R. Busch, H. Caglayan, E. Campbell, L. Canafoglia, Christina Canavati, G. Cascino, B. Castellotti, C. Catarino, G. Cavalleri, Felecia Cerrato, F. Chassoux, S. Cherny, C. Cheung, K. Chinthapalli, I‐Jun Chou, S. Chung, C. Churchhouse, Peggy O. Clark, A. Cole, Alastair Compston, A. Coppola, M. Cosico, P. Cossette, J. Craig, C. Cusick, M. J. Daly, L. Davis, G. de Haan, N. Delanty, C. Depondt, P. Derambure, O. Devinsky, L. Di Vito, D. Dlugos, Viola Doccini, C. Doherty, Hany El-Naggar, C. Elger, C. Ellis, J. Eriksson, Annika B. Faucon, Y. A. Feng, Lisa Ferguson, T. Ferraro, Lorenzo Ferri, M. Feucht, M. Fitzgerald, B. Fonferko-Shadrach, F. Fortunato, S. Franceschetti, A. Franke, Jacqueline A. French, E. Freri, M. Gagliardi, A. Gambardella, E. Geller, T. Giangregorio, L. Gjerstad, T. Glauser, Ethan M. Goldberg, Alicia Goldman, T. Granata, D. Greenberg, R. Guerrini, N. Gupta, K. Haas, H. Hakonarson, K. Hallmann, E. Hassanin, Manu Hegde, E. Heinzen, I. Helbig, Christian Hengsbach, H. Heyne, S. Hirose, E. Hirsch, H. Hjalgrim, D. Howrigan, Donald Hucks, P. Hung, M. Iacomino, Lukas L. Imbach, Y. Inoue, A. Ishii, Jennifer Jamnadas-Khoda, L. Jehi, M. R. Johnson, R. Kälviäinen, Y. Kamatani, Moien Kanaan, M. Kanai, Anne-Mari Kantanen, B. Kara, S. Kariuki, Dalia Kasperavičiūtė, Dorothée Kasteleijn-Nolst Trenité, Mitsuhiro Kato, J. Kegele, Y. Kesim, Nathalie Khoueiry-Zgheib, Chontelle King, H. Kirsch, K. Klein, G. Kluger, S. Knake, R. Knowlton, B. Koeleman, A. Korczyn, Andreas M. Koupparis, I. Kousiappa, R. Krause, M. Krenn, H. Krestel, Ilona Krey, W. Kunz, M. Kurki, G. Kurlemann, R. Kuzniecky, P. Kwan, A. Labate, A. Lacey, Dennis Lal, Z. Landoulsi, Y. Lau, Stephen Lauxmann, Stephanie L. Leech, A. Lehesjoki, J. Lemke, H. Lerche, G. Lesca, C. Leu, Naomi Lewin, D. Lewis-Smith, Gloria H.-Y. Li, Qingqin S. Li, L. Licchetta, Kuang Lin, D. Lindhout, T. Linnankivi, Í. Lopes-Cendes, D. Lowenstein, C. Lui, F. Madia, S. Magnússon, A. Marson, P. May, C. McGraw, D. Mei, J. Mills, R. Minardi, Nasir Mirza, R. Møller, A. Molloy, Martino Montomoli, B. Mostacci, L. Muccioli, H. Muhle, K. Müller-Schlüter, I. Najm, W. Nasreddine, B. Neale, B. Neubauer, Charles R Newton, M. Nöthen, M. Nothnagel, Peter Nürnberg, T. O'Brien, Y. Okada, E. Ólafsson, Karen L. Oliver, Ç. Özkara, A. Palotie, F. Pangilinan, S. Papacostas, E. Parrini, C. Pato, M. Pato, M. Pendziwiat, S. Petrovski, W. O. Pickrell, Rebecca Pinsky, T. Pippucci, A. Poduri, Federica Pondrelli, Robert Powell, M. Privitera, Annika Rademacher, Rodney Radtke, F. Ragona, S. Rau, M. Rees, Brigid M. Regan, P. Reif, Sylvain Rhelms, A. Riva, F. Rosenow, Philippe Ryvlin, Anni Saarela, L. Sadleir, J. Sander, T. Sander, Marcello Scala, T. Scattergood, S. Schachter, C. Schankin, I. Scheffer, B. Schmitz, S. Schoch, S. Schubert-Bast, A. Schulze-Bonhage, P. Scudieri, P. Sham, B. Sheidley, J. Shih, G. Sills, S. Sisodiya, Michael C Smith, Philip Smith, Anja C. M. Sonsma, Doug Speed, M. Sperling, H. Stefánsson, K. Stefansson, B. Steinhoff, U. Stephani, W. Stewart, Carlotta Stipa, P. Striano, H. Stroink, A. Strzelczyk, R. Surges, Toshimitsu Suzuki, K. Tan, R. Taneja, G. Tanteles, E. Taubøll, L. Thio, G. Thomas, R. Thomas, Oskari Timonen, P. Tinuper, M. Todaro, Pınar Topaloğlu, R. Tozzi, M. Tsai, Birutė Tumienė, D. Turkdoğan, U. Unnsteinsdóttir, A. Utkus, Priya Vaidiswaran, L. Valton, A. van Baalen, A. Vetro, E. Vining, F. Visscher, Sophie von Brauchitsch, R. von Wrede, Ryan G. Wagner, Y. Weber, S. Weckhuysen, J. Weisenberg, Michael Weller, P. Widdess-Walsh, M. Wolff, S. Wolking, David Wu, K. Yamakawa, Wanling Yang, Z. Yapıcı, Emrah Yücesan, S. Zagaglia, F. Zahnert, F. Zara, Wei Zhou, F. Zimprich, G. Zsurka, Q. Zulfiqar Ali   +318 more
semanticscholar   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

The association between epilepsy and COVID-19: analysis based on Mendelian randomization and FUMA

Frontiers in Neuroscience, 2023
ObjectiveA multitude of observational studies have underscored a substantial comorbidity between COVID-19 and epilepsy. This study was aimed at establishing a conclusive causal link between these two conditions.MethodsWe employed Mendelian randomization (
Mingyao You, Ping Yuan, Liangqian Li, Baoduo Li, Zijun Peng, Hongbei Xu   +5 more
doaj   +1 more source

Added Prognostic Value of EEG Reactivity in Comatose Patients Following Cardiac Arrest

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives To evaluate the added prognostic value of EEG reactivity for favorable outcome compared with background analysis during and after targeted temperature management (TTM). Methods Prospective observational cohort study of comatose post–cardiac arrest patients admitted to a single academic center between 2017 and 2022, all undergoing ...
Sarah Caroyer, Marie Obrecht, Charlotte de Maeseneire, Charlotte Damien, Chantal Depondt, Lorenzo Ferlini, Estelle Rikir, Filippo Annoni, Fabio Silvio Taccone, Nicolas Mavroudakis, Benjamin Legros, Nicolas Gaspard   +11 more
wiley   +1 more source