Results 41 to 50 of about 412,527 (171)

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 more
wiley   +1 more source

Monthly or menstrual? A scoping review of catamenial epilepsy and non‐menstrual seizure rhythms

Epilepsia, EarlyView.
Abstract Objective Despite the reported high prevalence of catamenial epilepsy (CE), the condition remains poorly defined, with lack of consensus on what entails a menstrual‐related seizure exacerbation. Emerging evidence of multiday cycles of seizure activity, including about‐monthly cycles, present in both men and women, further confound the ...
Victoria Wong, Ewan S. Nurse, Ashley Reynolds, Mark J. Cook, Philippa J. Karoly   +4 more
wiley   +1 more source

Is there a universal drug for epilepsy?

Эпилепсия и пароксизмальные состояния, 2018
The article reviews the use of antiepileptic drugs in various forms of epilepsy. We present a complex case of juvenile myoclonic epilepsy, the diagnostic process and antiepileptic therapy.
S. G. Burd, A. V. Lebedeva, Yu. V. Rubleva, M. B. Mironov, T. M. Krasilshikova   +4 more
doaj   +1 more source

Structural abnormalities of the thalamus in juvenile myoclonic epilepsy

, 2011
Studies have suggested that the thalamus is a key structure in the pathophysiology of juvenile myoclonic epilepsy. The objective of the present investigation was to examine the thalami of patients with juvenile myoclonic epilepsy using a combination of ...
Lopes-Cendes, Iscia, Carlos A.M. Guerreiro, Luiz E. Betting, Betting, Luiz Eduardo Gomes Garcia [UNESP], Cendes, Fernando, Susana Barreto Mory, Fernandes, Paula T., Li, Li M., Marilisa M. Guerreiro, Li M. Li, Mory, Susana Barreto, Betting, Luiz Eduardo Gomes Garcia, Fernando Cendes, Guerreiro, Carlos A. M., Paula T. Fernandes, Guerreiro, Marilisa M., Betting, Luiz E., Iscia Lopes-Cendes   +17 more
core   +1 more source

Altered cortical synchronization in photosensitive idiopathic generalized epilepsy

Epilepsia, EarlyView.
Abstract Objective To characterize cortical excitability and synchronization dynamics in patients with idiopathic generalized epilepsy (IGE) and photosensitivity by assessing steady‐state visual evoked potentials (SSVEPs) elicited by intermittent photic stimulation.
Alessandro Benedetto, Cecilia Steinwurzel, Francesco Turco, Enrica Bonanni, Roberto Cantello, Gionata Strigaro   +5 more
wiley   +1 more source

Praxis-induced seizures in a patient with juvenile myoclonic epilepsy: MEG-EEG coregistration study

Epilepsy and Behavior Case Reports, 2016
Purpose: Juvenile myoclonic epilepsy (JME) is one of the most common generalized idiopathic epilepsies of childhood and adolescence. In some patients with JME, mathematical calculus and praxis may induce myoclonic seizures.
Sira Carrasco-García de León, Guiomar Niso, Leonidas Canuet, Laura Burriel-Lobo, Fernando Maestú, María Gudín Rodríguez-Magariños   +5 more
doaj   +1 more source

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 more
wiley   +1 more source

Structural Brain Abnormality in JME

Pediatric Neurology Briefs, 1999
An automated and objective technique of statistical parametric mapping was employed in the analysis of structural MRI from 20 patients with juvenile myoclonic epilepsy (JME) and 30 control subjects studied at the Institute of Neurology, London, UK.
J Gordon Millichap
doaj   +1 more source

Prevalence of epilepsy and the burden of underlying causes: Canadian validation of Danish estimates

Epilepsia, EarlyView.
Abstract Objective Recent work has provided population‐based estimates of the prevalence of cause‐specific epilepsy across the lifespan in Denmark. We sought to externally validate these Danish “secondary epilepsy” findings to ascertain consistency across geographic regions.
Marin Anderson, Jakob Christensen, Channa Buxbaum, Jaimie Steinmetz, Nathalie Jette, Samuel Wiebe, Colin B. Josephson   +6 more
wiley   +1 more source

Myoclonic Jerks and Schizophreniform Syndrome: Case Report and Literature Review

Frontiers in Psychiatry, 2018
Background: Schizophreniform syndromes can be divided into primary idiopathic forms as well as different secondary organic subgroups (e.g., paraepileptic, epileptic, immunological, or degenerative).
Dominique Endres, Dominique Endres, Dirk-M. Altenmüller, Bernd Feige, Bernd Feige, Simon J. Maier, Simon J. Maier, Kathrin Nickel, Kathrin Nickel, Sabine Hellwig, Sabine Hellwig, Jördis Rausch, Jördis Rausch, Christiane Ziegler, Katharina Domschke, John P. Doerr, Karl Egger, Ludger Tebartz van Elst, Ludger Tebartz van Elst   +18 more
doaj   +1 more source