Results 1 to 10 of about 8,171 (145)
EEG Patterns Orienting to Lafora Disease Diagnosis—A Case Report in Two Beagles
Frontiers in Veterinary Science, 2020 Lafora Disease (LD) is a rare, fatal, late-onset, progressive form of myoclonic epilepsy, occurring in humans and dogs. Clinical manifestations of LD usually include seizures, spontaneous and reflex myoclonus with contractions of the neck and limb ...Helga Demeny, Bogdan Florea, Flaviu Tabaran, Cecilia Gabriella Danciu, Laurent Ognean +4 moredoaj +1 more sourceReflex seizures and epilepsy surgery: A network approach case‐based exploration
Epileptic Disorders, EarlyView.Abstract Context
Reflex seizures (RS) are defined by their consistent provocation by specific stimuli, encompassing a broad range from elementary sensory inputs to complex cognitive tasks. While RS are often encountered in clinical practice, their surgical management remains sparsely reported and poorly systematized.Olivier Aron, Laure Salmon, Nicolas Nguyen, Dènahin Toffa, Sami Obaid, Alexis Robin, Dang Khoa Nguyen +6 morewiley +1 more sourceMyoclonic epilepsy in Down syndrome and Alzheimer disease
Neurología (English Edition), 2017 Introduction: Patients with Down syndrome (DS) who exhibit Alzheimer disease (AD) are associated with age. Both diseases with a common neuropathological basis have been associated with late-onset myoclonic epilepsy (LOMEDS).J.S. Aller-Alvarez, M. Menéndez-González, R. Ribacoba-Montero, M. Salvado, V. Vega, R. Suárez-Moro, M. Sueiras, M. Toledo, J. Salas-Puig, J. Álvarez-Sabin +9 moredoaj +1 more sourceVideo‐based diagnostics supported by artificial intelligence as an opportunity to address the epilepsy diagnostic gap: A narrative review
Epilepsia, EarlyView.Abstract
Despite advancements in epilepsy care, a substantial diagnostic gap persists, particularly in resource‐limited settings. This narrative review explores the potential of video‐based diagnostics augmented by artificial intelligence (AI) to address this gap by enabling earlier and more accessible seizure detection and classification.Gadi Miron, Robert Terziev, Maximilian Schöls, John McLaren, Tobias Loddenkemper, Jörg Wellmer, Sigrid Mues, Christian Meisel +7 morewiley +1 more sourceEpilepsia mioclónica en el síndrome de Down y en la enfermedad de Alzheimer
Neurología, 2017 Resumen: Introducción: Los pacientes con síndrome de Down (SD) presentan una demencia tipo Alzheimer (EA) asociada a la edad. Ambas patologías, con una base neuropatológica común, han sido asociadas a la epilepsia mioclónica de inicio tardío (LOMEDS ...J.S. Aller-Alvarez, M. Menéndez-González, R. Ribacoba-Montero, M. Salvado, V. Vega, R. Suárez-Moro, M. Sueiras, M. Toledo, J. Salas-Puig, J. Álvarez-Sabin +9 moredoaj +1 more sourceOligogenic 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 sourceFrontal deficits and atrophy in a patient with familial encephalopathy with neuroserpin inclusion bodies detected by single-case voxel-based morphometry: a case report
BMC NeurologyBackground Familial encephalopathy with neuroserpin inclusion bodies (FENIB) is a rare genetic disorder characterized by progressive cognitive decline and myoclonic epilepsy, caused by pathogenic variants of SERPINI1.Hideo Handa, Atsuhiko Sugiyama, Tadashi Kaname, Yoko Shigemoto, Noriko Sato, Shigeki Hirano, Yuki Nakagawa, Akiyuki Uzawa, Akiyo Aotsuka, Satoshi Kuwabara +9 moredoaj +1 more source
