المؤلفون: Margarita Maltseva, Susanne Schubert-Bast, Johann Philipp Zöllner, Thomas Bast, Thomas Mayer, Sarah von Spiczak, Susanne Ruf, Regina Trollmann, Markus Wolff, Frauke Hornemann, Kerstin A. Klotz, Julia Jacobs, Gerhard Kurlemann, Bernd A. Neubauer, Tilman Polster, Steffen Syrbe, Astrid Bertsche, Ulrich Bettendorf, Gerhard Kluger, Silke Flege, Felix Rosenow, Lara Kay, Adam Strzelczyk

المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-14 (2023)

مصطلحات موضوعية: Epilepsy, Seizure, Quality of life, Encephalopathy, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/825ddba58c014a71a7878d0972bc38f4Test

المؤلفون: Adam Strzelczyk, Gerhard Kurlemann, Thomas Bast, Ulrich Bettendorf, Gerhard Kluger, Thomas Mayer, Bernd A. Neubauer, Tilman Polster, Sarah von Spiczak, Regina Trollmann, Markus Wolff, Toby Toward, Jens Gruenert, Eddie Gibson, Clive Pritchard, Joe Carroll, Felix Rosenow, Susanne Schubert-Bast

المصدر: Neurological Research and Practice, Vol 4, Iss 1, Pp 1-10 (2022)

مصطلحات موضوعية: Dravet syndrome, Composite endpoint, Statistical analysis, Seizures, Symptoms, Quality of life, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2524-3489Test

الوصول الحر: https://doaj.org/article/e05ce7a84e6641ca8282ec1c9a87009eTest

المؤلفون: Géza Berecki, Katherine B. Howell, Jacqueline Heighway, Nelson Olivier, Jill Rodda, Isabella Overmars, Danique R. M. Vlaskamp, Tyson L. Ware, Simone Ardern-Holmes, Gaetan Lesca, Michael Alber, Pierangelo Veggiotti, Ingrid E. Scheffer, Samuel F. Berkovic, Markus Wolff, Steven Petrou

المصدر: Communications Biology, Vol 5, Iss 1, Pp 1-13 (2022)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2399-3642Test

الوصول الحر: https://doaj.org/article/7e36edaad8f740ddbb8634f082580efcTest

المؤلفون: Jens G. Klinzing, Lilian Tashiro, Susanne Ruf, Markus Wolff, Jan Born, Hong-Viet V. Ngo

المصدر: Cell Reports Medicine, Vol 2, Iss 11, Pp 100432- (2021)

مصطلحات موضوعية: BECTS, rolandic epilepsy, spikes, sleep, auditory stimulation, sleep spindles, Medicine (General), R5-920

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2666379121002949Test; https://doaj.org/toc/2666-3791Test

الوصول الحر: https://doaj.org/article/c9fae2ae7f9645e09bf3270293ce47d4Test

المؤلفون: Joohyun Park, Mahmoud Koko, Ulrike B. S. Hedrich, Andreas Hermann, Kirsten Cremer, Edda Haberlandt, Mona Grimmel, Bader Alhaddad, Stefanie Beck‐Woedl, Merle Harrer, Daniela Karall, Lisa Kingelhoefer, Andreas Tzschach, Lars C. Matthies, Tim M. Strom, Erich Bernd Ringelstein, Marc Sturm, Hartmut Engels, Markus Wolff, Holger Lerche, Tobias B. Haack

المصدر: Annals of Clinical and Translational Neurology, Vol 6, Iss 7, Pp 1319-1326 (2019)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2328-9503Test

الوصول الحر: https://doaj.org/article/6c5fac79b9f542b2975de3d0a57bfdceTest

المؤلفون: Celina von Stülpnagel, Andreas van Baalen, Ingo Borggraefe, Kirsten Eschermann, Till Hartlieb, Lorenz Kiwull, Milka Pringsheim, Markus Wolff, Manfred Kudernatsch, Gert Wiegand, Pasquale Striano, Gerhard Kluger, NETRE Consortium

المصدر: Frontiers in Neurology, Vol 11 (2021)

مصطلحات موضوعية: NETRE, FIRES (Febrile infection epilepsy-related syndrome), SYNGAP1, SYN1, FOXG1, SCN2A, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2020.622510/fullTest; https://doaj.org/toc/1664-2295Test

الوصول الحر: https://doaj.org/article/64a0b7568bf740fa8a010a0df016a736Test

المؤلفون: Isabel A. Michaelis, Maryke Nielsen, Craig Carty, Markus Wolff, Caroline A. Sabin, John S. Lambert

المصدر: Southern African Journal of HIV Medicine, Vol 21, Iss 1, Pp e1-e6 (2020)

مصطلحات موضوعية: epilepsy, hiv-infection, children, who staging, paediatric art data management tool, Public aspects of medicine, RA1-1270, Infectious and parasitic diseases, RC109-216

وصف الملف: electronic resource

العلاقة: https://sajhivmed.org.za/index.php/hivmed/article/view/1047Test; https://doaj.org/toc/1608-9693Test; https://doaj.org/toc/2078-6751Test

الوصول الحر: https://doaj.org/article/f2716660004e4fea852be85e99a89d30Test

المؤلفون: Jan Henje Döring, Afshin Saffari, Thomas Bast, Knut Brockmann, Laura Ehrhardt, Walid Fazeli, Wibke G. Janzarik, Gerhard Kluger, Hiltrud Muhle, Rikke S. Møller, Konrad Platzer, Joana Larupa Santos, Iben Bache, Astrid Bertsche, Michaela Bonfert, Ingo Borggräfe, Philip J. Broser, Alexandre N. Datta, Trine Bjørg Hammer, Hans Hartmann, Anette Hasse-Wittmer, Marco Henneke, Hermann Kühne, Johannes R. Lemke, Oliver Maier, Eva Matzker, Andreas Merkenschlager, Joachim Opp, Steffi Patzer, Kevin Rostasy, Birgit Stark, Adam Strzelczyk, Celina von Stülpnagel, Yvonne Weber, Markus Wolff, Birgit Zirn, Georg Friedrich Hoffmann, Stefan Kölker, Steffen Syrbe

المصدر: Biomedicines, Vol 8, Iss 11, p 456 (2020)

مصطلحات موضوعية: PRRT2, BFIS, PKD, PKD/IC, hemiplegic migraine, familial infantile epilepsy, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2227-9059/8/11/456Test; https://doaj.org/toc/2227-9059Test

الوصول الحر: https://doaj.org/article/eb6e214b3abb422dac7278efdec1bac7Test

المؤلفون: Schijven D., Stevelink R., McCormack M., van Rheenen W., Luykx J. J., Koeleman B. P. C., Veldink J. H., Aleksey Shatunov, Russell L. McLaughlin, Rick A. A. van der Spek, Alfredo Iacoangeli, Kevin P. Kenna, Kristel R. van Eijk, Nicola Ticozzi, Boris Rogelj, Katarina Vrabec, Metka Ravnik-Glavač, Blaž Koritnik, Janez Zidar, Lea Leonardis, Leja Dolenc Grošelj, Stéphanie Millecamps, François Salachas, Vincent Meininger, Mamede de Carvalho, Susana Pinto, Marta Gromicho, Ana Pronto-Laborinho, Jesus S. Mora, Ricardo Rojas-García, Meraida Polak, Siddharthan Chandran, Shuna Colville, Robert Swingler, Karen E. Morrison, Pamela J. Shaw, John Hardy, Richard W. Orrell, Alan Pittman, Katie Sidle, Pietro Fratta, Andrea Malaspina, Simon Topp, Susanne Petri, Susanna Abdulla, Carsten Drepper, Michael Sendtner, Thomas Meyer, Roel A. Ophoff, Kim A. Staats, Martina Wiedau-Pazos, Catherine Lomen-Hoerth, Vivianna M. Van Deerlin, John Q. Trojanowski, Lauren Elman, Leo McCluskey, A. Nazli Basak, Thomas Meitinger, Peter Lichtner, Milena Blagojevic-Radivojkov, Christian R. Andres, Gilbert Bensimon, Bernhard Landwehrmeyer, Alexis Brice, Christine A. M. Payan, Safaa Saker-Delye, Alexandra Dürr, Nicholas W. Wood, Lukas Tittmann, Wolfgang Lieb, Andre Franke, Marcella Rietschel, Sven Cichon, Markus M. Nöthen, Philippe Amouyel, Christophe Tzourio, Jean-François Dartigues, Andre G. Uitterlinden, Fernando Rivadeneira, Karol Estrada, Albert Hofman, Charles Curtis, Anneke J. van der Kooi, Markus Weber, Christopher E. Shaw, Bradley N. Smith, Daisy Sproviero, Cristina Cereda, Mauro Ceroni, Luca Diamanti, Roberto Del Bo, Stefania Corti, Giacomo P. Comi, Sandra D'Alfonso, Lucia Corrado, Cinzia Bertolin, Gianni Sorarù, Letizia Mazzini, Viviana Pensato, Cinzia Gellera, Cinzia Tiloca, Antonia Ratti, Andrea Calvo, Cristina Moglia, Maura Brunetti, Simona Arcuti, Rosa Capozzo, Chiara Zecca, Christian Lunetta, Silvana Penco, Nilo Riva, Alessandro Padovani, Massimiliano Filosto, Ian Blair, Garth A. Nicholson, Dominic B. Rowe, Roger Pamphlett, Matthew C. Kiernan, Julian Grosskreutz, Otto W. Witte, Robert Steinbach, Tino Prell, Beatrice Stubendorff, Ingo Kurth, Christian A. Hübner, P. Nigel Leigh, Federico Casale, Adriano Chio, Ettore Beghi, Elisabetta Pupillo, Rosanna Tortelli, Giancarlo Logroscino, John Powell, Albert C. Ludolph, Jochen H. Weishaupt, Wim Robberecht, Philip Van Damme, Robert H. Brown, Jonathan D. Glass, John E. Landers, Orla Hardiman, Peter M. Andersen, Philippe Corcia, Patrick Vourc'h, Vincenzo Silani, Michael A. van Es, R. Jeroen Pasterkamp, Cathryn M. Lewis, Gerome Breen, Ammar Al-Chalabi, Leonard H. van den Berg, Jan H. Veldink, Daniela Calini, Isabella Fogh, Barbara Castellotti, Franco Taroni, Stella Gagliardi, Giacomo Comi, Sandra D’Alfonso, Elena Pegoraro, Giorgia Querin, Francesca Gerardi, Fabrizio Rinaldi, Maria Sofia Cotelli, Luca Chiveri, Maria Cristina Guaita, Patrizia Perrone, Giancarlo Comi, Carlo Ferrarese, Lucio Tremolizzo, Marialuisa Delodovici, Giorgio Bono, Stefania Cammarosano, Antonio Canosa, Dario Cocito, Leonardo Lopiano, Luca Durelli, Bruno Ferrero, Antonio Bertolotto, Alessandro Mauro, Luca Pradotto, Roberto Cantello, Enrica Bersano, Dario Giobbe, Maurizio Gionco, Daniela Leotta, Lucia Appendino, Cavallo Cavallo, Enrico Odddenino, Claudio Geda, Fabio Poglio, Paola Santimaria, Umberto Massazza, Antonio Villani, Roberto Conti, Fabrizio Pisano, Mario Palermo, Franco Vergnano, Paolo Provera, Maria Teresa Penza, Marco Aguggia, Nicoletta Di Vito, Piero Meineri, Ilaria Pastore, Paolo Ghiglione, Danilo Seliak, Nicola Launaro, Giovanni Astegiano, Bottacchi Edo, Isabella Laura Simone, Stefano Zoccolella, Michele Zarrelli, Franco Apollo, William Camu, Jean Sebastien Hulot, Francois Viallet, Philippe Couratier, David Maltete, Christine Tranchant, Marie Vidailhet, Bassel Abou-Khalil, Pauls Auce, Andreja Avbersek, Melanie Bahlo, David J Balding, Thomas Bast, Larry Baum, Albert J Becker, Felicitas Becker, Bianca Berghuis, Samuel F Berkovic, Katja E Boysen, Jonathan P Bradfield, Lawrence C Brody, Russell J Buono, Ellen Campbell, Gregory D Cascino, Claudia B Catarino, Gianpiero L Cavalleri, Stacey S Cherny, Krishna Chinthapalli, Alison J Coffey, Alastair Compston, Antonietta Coppola, Patrick Cossette, John J Craig, Gerrit-Jan de Haan, Peter De Jonghe, Carolien G F de Kovel, Norman Delanty, Chantal Depondt, Orrin Devinsky, Dennis J Dlugos, Colin P Doherty, Christian E Elger, Johan G Eriksson, Thomas N Ferraro, Martha Feucht, Ben Francis, Jacqueline A French, Saskia Freytag, Verena Gaus, Eric B Geller, Christian Gieger, Tracy Glauser, Simon Glynn, David B Goldstein, Hongsheng Gui, Youling Guo, Kevin F Haas, Hakon Hakonarson, Kerstin Hallmann, Sheryl Haut, Erin L Heinzen, Ingo Helbig, Christian Hengsbach, Helle Hjalgrim, Michele Iacomino, Andrés Ingason, Michael R Johnson, Reetta Kälviäinen, Anne-Mari Kantanen, Dalia Kasperavičiūte, Dorothee Kasteleijn-Nolst Trenite, Heidi E Kirsch, Robert C Knowlton, Bobby P C Koeleman, Roland Krause, Martin Krenn, Wolfram S Kunz, Ruben Kuzniecky, Patrick Kwan, Dennis Lal, Yu-Lung Lau, Anna-Elina Lehesjoki, Holger Lerche, Costin Leu, Dick Lindhout, Warren D Lo, Iscia Lopes-Cendes, Daniel H Lowenstein, Alberto Malovini, Anthony G Marson, Thomas Mayer, Mark McCormack, James L Mills, Nasir Mirza, Martina Moerzinger, Rikke S Møller, Anne M Molloy, Hiltrud Muhle, Mark Newton, Ping-Wing Ng, Markus M Nöthen, Peter Nürnberg, Terence J O’Brien, Karen L Oliver, Aarno Palotie, Faith Pangilinan, Sarah Peter, Slavé Petrovski, Annapurna Poduri, Michael Privitera, Rodney Radtke, Sarah Rau, Philipp S Reif, Eva M Reinthaler, Felix Rosenow, Josemir W Sander, Thomas Sander, Theresa Scattergood, Steven C Schachter, Christoph J Schankin, Ingrid E Scheffer, Bettina Schmitz, Susanne Schoch, Pak C Sham, Jerry J Shih, Graeme J Sills, Sanjay M Sisodiya, Lisa Slattery, Alexander Smith, David F Smith, Michael C Smith, Philip E Smith, Anja C M Sonsma, Doug Speed, Michael R Sperling, Bernhard J Steinhoff, Ulrich Stephani, Remi Stevelink, Konstantin Strauch, Pasquale Striano, Hans Stroink, Rainer Surges, K Meng Tan, Liu Lin Thio, G Neil Thomas, Marian Todaro, Rossana Tozzi, Maria S Vari, Eileen P G Vining, Frank Visscher, Sarah von Spiczak, Nicole M Walley, Yvonne G Weber, Zhi Wei, Judith Weisenberg, Christopher D Whelan, Peter Widdess-Walsh, Markus Wolff, Stefan Wolking, Wanling Yang, Federico Zara, Fritz Zimprich

المساهمون: D., Schijven, R., Stevelink, M., Mccormack, W., van Rheenen, J. J., Luykx, B. P. C., Koeleman, J. H., Veldink, Shatunov, Aleksey, Mclaughlin, Russell L., van der Spek, Rick A. A., Iacoangeli, Alfredo, Kenna, Kevin P., van Eijk, Kristel R., Ticozzi, Nicola, Rogelj, Bori, Vrabec, Katarina, Ravnik-Glavač, Metka, Koritnik, Blaž, Zidar, Janez, Leonardis, Lea, Dolenc Grošelj, Leja, Millecamps, Stéphanie, Salachas, Françoi, Meininger, Vincent, de Carvalho, Mamede, Pinto, Susana, Gromicho, Marta, Pronto-Laborinho, Ana, Mora, Jesus S., Rojas-García, Ricardo, Polak, Meraida, Chandran, Siddharthan, Colville, Shuna, Swingler, Robert, Morrison, Karen E., Shaw, Pamela J., Hardy, John, Orrell, Richard W., Pittman, Alan, Sidle, Katie, Fratta, Pietro, Malaspina, Andrea, Topp, Simon, Petri, Susanne, Abdulla, Susanna, Drepper, Carsten, Sendtner, Michael, Meyer, Thoma, Ophoff, Roel A., Staats, Kim A., Wiedau-Pazos, Martina, Lomen-Hoerth, Catherine, Van Deerlin, Vivianna M., Trojanowski, John Q., Elman, Lauren, Mccluskey, Leo, Nazli Basak, A., Meitinger, Thoma, Lichtner, Peter, Blagojevic-Radivojkov, Milena, Andres, Christian R., Bensimon, Gilbert, Landwehrmeyer, Bernhard, Brice, Alexi, Payan, Christine A. M., Saker-Delye, Safaa, Dürr, Alexandra, Wood, Nicholas W., Tittmann, Luka, Lieb, Wolfgang, Franke, Andre, Rietschel, Marcella, Cichon, Sven, Nöthen, Markus M., Amouyel, Philippe, Tzourio, Christophe, Dartigues, Jean-Françoi, Uitterlinden, Andre G., Rivadeneira, Fernando, Estrada, Karol, Hofman, Albert, Curtis, Charle, van der Kooi, Anneke J., Weber, Marku, Shaw, Christopher E., Smith, Bradley N., Sproviero, Daisy, Cereda, Cristina, Ceroni, Mauro, Diamanti, Luca, Del Bo, Roberto, Corti, Stefania, Comi, Giacomo P., D'Alfonso, Sandra, Corrado, Lucia, Bertolin, Cinzia, Sorarù, Gianni, Mazzini, Letizia, Pensato, Viviana, Gellera, Cinzia

مصطلحات موضوعية: ALS, Epilepsy, Genetic correlation, Amyotrophic Lateral Sclerosi, Gene Frequency, Human, Risk, Genetic Variation, Genome-Wide Association Study, Negative Results

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32409253; info:eu-repo/semantics/altIdentifier/wos/WOS:000539467300016; volume:92; firstpage:153; numberofpages:8; journal:NEUROBIOLOGY OF AGING; http://hdl.handle.net/11577/3443731Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85084453564

الإتاحة: https://doi.org/10.1016/j.neurobiolaging.2020.04.011Test
http://hdl.handle.net/11577/3443731Test

المؤلفون: Sara Baldassari, Fabienne Picard, Nienke E. Verbeek, Marjan van Kempen, Eva H. Brilstra, Gaetan Lesca, Valerio Conti, Renzo Guerrini, Francesca Bisulli, Laura Licchetta, Tommaso Pippucci, Paolo Tinuper, Edouard Hirsch, Anne de Saint Martin, Jamel Chelly, Gabrielle Rudolf, Mathilde Chipaux, Sarah Ferrand-Sorbets, Georg Dorfmüller, Sanjay Sisodiya, Simona Balestrini, Natasha Schoeler, Laura Hernandez-Hernandez, S. Krithika, Renske Oegema, Eveline Hagebeuk, Boudewijn Gunning, Charles Deckers, Bianca Berghuis, Ilse Wegner, Erik Niks, Floor E. Jansen, Kees Braun, Daniëlle de Jong, Guido Rubboli, Inga Talvik, Valentin Sander, Peter Uldall, Marie-Line Jacquemont, Caroline Nava, Eric Leguern, Sophie Julia, Antonio Gambardella, Giuseppe d’Orsi, Giovanni Crichiutti, Laurence Faivre, Veronique Darmency, Barbora Benova, Pavel Krsek, Arnaud Biraben, Anne-Sophie Lebre, Mélanie Jennesson, Shifteh Sattar, Cécile Marchal, Douglas R. Nordli, Kristin Lindstrom, Pasquale Striano, Lysa B. Lomax, Courtney Kiss, Fabrice Bartolomei, Anne F. Lepine, An-Sofie Schoonjans, Katrien Stouffs, Anna Jansen, Eleni Panagiotakaki, Brigitte Ricard-Mousnier, Julien Thevenon, Julitta de Bellescize, Hélène Catenoix, Thomas Dorn, Martin Zenker, Karen Müller-Schlüter, Christian Brandt, Ilona Krey, Tilman Polster, Markus Wolff, Meral Balci, Kevin Rostasy, Guillaume Achaz, Pia Zacher, Thomas Becher, Thomas Cloppenborg, Christopher J. Yuskaitis, Sarah Weckhuysen, Annapurna Poduri, Johannes R. Lemke, Rikke S. Møller, Stéphanie Baulac

مصطلحات موضوعية: DEPDC5, mTORC1 pathway, Genetic focal epilepsy, Focal cortical dysplasia, SUDEP

العلاقة: 10779/aru.23779713.v1; https://figshare.com/articles/journal_contribution/The_landscape_of_epilepsy-related_GATOR1_variants/23779713Test

الإتاحة: https://figshare.com/articles/journal_contribution/The_landscape_of_epilepsy-related_GATOR1_variants/23779713Test