Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Bianca, Berghuis"'
Autor:
Katri Silvennoinen, Nikola deLange, Sara Zagaglia, Simona Balestrini, Ganna Androsova, Merel Wassenaar, Pauls Auce, Andreja Avbersek, Felicitas Becker, Bianca Berghuis, Ellen Campbell, Antonietta Coppola, Ben Francis, Stefan Wolking, Gianpiero L. Cavalleri, John Craig, Norman Delanty, Michael R. Johnson, Bobby P. C. Koeleman, Wolfram S. Kunz, Holger Lerche, Anthony G. Marson, Terence J. O’Brien, Josemir W. Sander, Graeme J. Sills, Pasquale Striano, Federico Zara, Job van derPalen, Roland Krause, Chantal Depondt, Sanjay M. Sisodiya, the EpiPGX Consortium
Publikováno v:
Epilepsia Open, Vol 4, Iss 3, Pp 420-430 (2019)
Abstract Objective To study the effectiveness and tolerability of antiepileptic drugs (AEDs) commonly used in juvenile myoclonic epilepsy (JME). Methods People with JME were identified from a large database of individuals with epilepsy, which include
Externí odkaz:
https://doaj.org/article/7e0bae26f0854a818290ffd6aefbb5da
Autor:
Dick Lindhout, Bianca Berghuis, Bobby P. C. Koeleman, Janic Hulst, Gerrit-Jan de Haan, Josemir W. Sander, Anja C M Sonsma, Mark McCormack
Publikováno v:
Epilepsia
Objective To ascertain whether adverse effects experienced by people taking carbamazepine or oxcarbazepine could be attributed to carbamazepine‐ or oxcarbazepine‐induced hyponatremia (COIH). Methods We performed an observational study, collecting
Autor:
Schijven, D., Stevelink, R., Mccormack, M., van Rheenen, W., Luykx, J. J., Koeleman, B. P. C., Veldink, J. H., Aleksey, Shatunov, Mclaughlin, Russell L., van der Spek, Rick A. A., Alfredo, Iacoangeli, Kenna, Kevin P., van Eijk, Kristel R., 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, Mora, Jesus S., Ricardo, Rojas-García, Meraida, Polak, Siddharthan, Chandran, Shuna, Colville, Robert, Swingler, Morrison, Karen E., Shaw, Pamela J., John, Hardy, Orrell, Richard W., Alan, Pittman, Katie, Sidle, Pietro, Fratta, Andrea, Malaspina, Simon, Topp, Susanne, Petri, Susanna, Abdulla, Carsten, Drepper, Michael, Sendtner, Thomas, Meyer, Ophoff, Roel A., Staats, Kim A., Martina, Wiedau-Pazos, Catherine, Lomen-Hoerth, Van Deerlin, Vivianna M., Trojanowski, John Q., Lauren, Elman, Leo, Mccluskey, Nazli Basak, A., Thomas, Meitinger, Peter, Lichtner, Milena, Blagojevic-Radivojkov, Andres, Christian R., Gilbert, Bensimon, Bernhard, Landwehrmeyer, Alexis, Brice, Payan, Christine A. M., Safaa, Saker-Delye, Alexandra, Dürr, Wood, Nicholas W., Lukas, Tittmann, Wolfgang, Lieb, Andre, Franke, Marcella, Rietschel, Sven, Cichon, Nöthen, Markus M., Philippe, Amouyel, Christophe, Tzourio, Jean-François, Dartigues, Uitterlinden, Andre G., Fernando, Rivadeneira, Karol, Estrada, Albert, Hofman, Charles, Curtis, van der Kooi, Anneke J., Markus, Weber, Shaw, Christopher E., Smith, Bradley N., Daisy, Sproviero, Cristina, Cereda, Mauro, Ceroni, Luca, Diamanti, Roberto Del Bo, Stefania, Corti, Comi, Giacomo P., Sandra, D'Alfonso, Lucia, Corrado, Bertolin, Cinzia, Soraru', Gianni, 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, Nicholson, Garth A., Rowe, Dominic B., Roger, Pamphlett, Kiernan, Matthew C., Julian, Grosskreutz, Witte, Otto W., Robert, Steinbach, Tino, Prell, Beatrice, Stubendorff, Ingo, Kurth, Hübner, Christian A., Nigel Leigh, P., Federico, Casale, Adriano, Chio, Ettore, Beghi, Elisabetta, Pupillo, Rosanna, Tortelli, Giancarlo, Logroscino, John, Powell, Ludolph, Albert C., Weishaupt, Jochen H., Wim, Robberecht, Philip Van Damme, Brown, Robert H., Glass, Jonathan D., Landers, John E., Orla, Hardiman, Andersen, Peter M., Philippe, Corcia, Patrick, Vourc'H, Vincenzo, Silani, van Es, Michael A., Jeroen Pasterkamp, R., Lewis, Cathryn M., Gerome, Breen, Ammar, Al-Chalabi, van den Berg, Leonard H., Veldink, Jan H., Daniela, Calini, Isabella, Fogh, Barbara, Castellotti, Franco, Taroni, Stella, Gagliardi, Giacomo, Comi, Sandra, D’Alfonso, Pegoraro, Elena, 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
Publikováno v:
Project MinE ALS GWAS Consortium & Morrison, K 2020, ' Analysis of shared common genetic risk between amyotrophic lateral sclerosis and epilepsy ', Neurobiology of Aging, vol. 92, pp. 153.e1-153.e5 . https://doi.org/10.1016/j.neurobiolaging.2020.04.011
Neurobiology of Aging
Neurobiology of aging
Neurobiology of Aging
Neurobiology of aging
Because hyper-excitability has been shown to be a shared pathophysiological mechanism, we used the latest and largest genome-wide studies in amyotrophic lateral sclerosis (n = 36,052) and epilepsy (n = 38,349) to determine genetic overlap between the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30266778acc091f0f35d4e5c44b9d50e
https://lirias.kuleuven.be/handle/123456789/681935
https://lirias.kuleuven.be/handle/123456789/681935
Autor:
Johannes R. Lemke, Thomas Dorn, Laura Hernandez-Hernandez, Giuseppe d'Orsi, Eveline Hagebeuk, Annapurna Poduri, Douglas R. NordliJr, Hélène Catenoix, Melanie Jennesson, Veronique Darmency, Kevin Rostasy, Thomas Becher, Laura Licchetta, Peter Uldall, Lysa Boissé Lomax, Bianca Berghuis, Ilona Krey, Gaetan Lesca, Anne de Saint Martin, Boudewijn Gunning, Anne Fabienne Lepine, Renske Oegema, Brigitte Ricard-Mousnier, Sarah Ferrand-Sorbets, Arnaud Biraben, Charles Deckers, An Sofie Schoonjans, Martin Zenker, Simona Balestrini, Inga Talvik, Julitta de Bellescize, Christopher J. Yuskaitis, Georg Dorfmüller, Erik H. Niks, Guillaume Achaz, Laurence Faivre, Pasquale Striano, Shifteh Sattar, Karen Müller-Schlüter, Sanjay M. Sisodiya, Caroline Nava, Pia Zacher, Fabrice Bartolomei, Kristin Lindstrom, Sophie Julia, Eric LeGuern, Thomas Cloppenborg, Rikke S. Møller, Antonio Gambardella, Mathilde Chipaux, Sara Baldassari, Pavel Krsek, Marie Line Jacquemont, Ilse Wegner, Christian Brandt, Barbora Benova, Valerio Conti, Gabrielle Rudolf, Floor E. Jansen, Edouard Hirsch, S. Krithika, Jamel Chelly, Katrien Stouffs, Daniëlle de Jong, Courtney Kiss, Tilman Polster, Eva H. Brilstra, Tommaso Pippucci, Markus Wolff, Cécile Marchal, Giovanni Crichiutti, Kees P.J. Braun, Paolo Tinuper, Stéphanie Baulac, Valentin Sander, Anne-Sophie Lebre, Nienke E. Verbeek, Anna Jansen, Francesca Bisulli, Fabienne Picard, Natasha E. Schoeler, Julien Thevenon, Marjan J. A. van Kempen, Guido Rubboli, Sarah Weckhuysen, Renzo Guerrini, Eleni Panagiotakaki, Meral Balci
Publikováno v:
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2019, 21 (8), pp.1896-1896. ⟨10.1038/s41436-018-0325-9⟩
Genetics in Medicine, 2019, 21 (8), pp.1896-1896. ⟨10.1038/s41436-018-0325-9⟩
Genetics in Medicine, Nature Publishing Group, 2019, 21 (8), pp.1896-1896. ⟨10.1038/s41436-018-0325-9⟩
Genetics in Medicine, 2019, 21 (8), pp.1896-1896. ⟨10.1038/s41436-018-0325-9⟩
International audience; The original version of this article contained an error in the spelling of the author Erik H. Niks, which was incorrectly given as Erik Niks. This has now been corrected in both the PDF and HTML versions of the article.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a7062443bf253f4f526ef6123c65feb
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-02066352
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-02066352
Autor:
Christian E. Elger, Wolfgang Lieb, Claudia B. Catarino, Pasquale Striano, Andreja Avbersek, Daniel H. Lowenstein, Philip E. M. Smith, G. Neil Thomas, Dick Lindhout, Erin L. Heinzen, Sanjay M. Sisodiya, Orrin Devinsky, Alexander R. H. Smith, Rainer Surges, Stefan Wolking, Patrick Cossette, Annapurna Poduri, Eric B. Geller, Stacey S. Cherny, Maria Stella Vari, Peter De Jonghe, Kevin Haas, Andres Ingason, Reetta Kälviäinen, Krishna Chinthapalli, Dennis Lal, Graeme J. Sills, Martina Moerzinger, Jonathan P. Bradfield, Mark R Newton, Federico Zara, Sheryl R. Haut, Warren D. Lo, Holger Lerche, Felix Rosenow, Robert C. Knowlton, Mark McCormack, Sarah Rau, Felicitas Becker, Andre Franke, Heidi E. Kirsch, Patrick Kwan, Remi Stevelink, Rodney A. Radtke, Michele Iacomino, Faith Pangilinan, Ulrich Stephani, David F. Smith, Eva M. Reinthaler, Chantal Depondt, Hiltrud Muhle, Russell J. Buono, Alison J. Coffey, Ellen Campbell, Marvin Johnson, Bernhard J. Steinhoff, Sarah von Spiczak, Yvonne G. Weber, Ping-Wing Ng, Kerstin Hallmann, Philipp S. Reif, David Goldstein, Bettina Schmitz, Antonietta Coppola, Jerry J. Shih, Karen Oliver, Anne-Mari Kantanen, Rossana Tozzi, Markus Wolff, Albert J. Becker, Anne M. Molloy, Lisa Slattery, James L. Mills, Judith L.Z. Weisenberg, Jacqueline A. French, Lawrence C. Brody, Int League Against Epilepsy Conso, Peter Widdess-Walsh, Helle Hjalgrim, Christian Hengsbach, Christoph J. Schankin, Johan G. Eriksson, Tracy A. Glauser, Yu-Lung Lau, Larry Baum, Anna-Elina Lehesjoki, Nicole M. Walley, Josemir W. Sander, Markus M. Noethen, Simon Glynn, Jennifer Jamnadas-Khoda, Thomas Bast, Susanne Schoch, Iscia Lopes-Cendes, Doug Speed, Anja C M Sonsma, John Craig, Ingo Helbig, Marian Todaro, Gregory D. Cascino, Steven C. Schachter, Fritz Zimprich, Samuel F. Berkovic, Michael Privitera, Ben Francis, Martin Krenn, Rikke S. Møller, Eileen P.G. Vining, Martha Feucht, Bobby P. C. Koeleman, Ruben Kuzniecky, Christian Gieger, K. Meng Tan, Dalia Kasperaviciute, Pauls Auce, Gianpiero L. Cavalleri, Melanie Bahlo, Zhi Wei, Nasir Mirza, David J. Balding, Mike Smith, Liu Lin Thio, Alastair Compston, Katja E. Boysen, Gerrit-Jan de Haan, Hongsheng Gui, Hakon Hakonarson, Christopher D. Whelan, Colin P. Doherty, Youling Guo, Aarno Palotie, Wolfram S. Kunz, Slavé Petrovski, Thomas Sander, Frank Visscher, Bianca Berghuis, Costin Leu, Verena Gaus, Dennis J. Dlugos, Ingrid E. Scheffer, Alberto Malovini, Konstantin Strauch, Wanling Yang, Saskia Freytag, H. Stroink, Pak C. Sham, Norman Delanty, Terence J. O'Brien, Carolien G.F. de Kovel, Thomas U. Mayer, Anthony G Marson, Bassel Abou-Khalil, Thomas N. Ferraro, Dorothée G.A. Kasteleijn-Nolst Trenité, Roland Krause, Sarah Peter, Peter Nuernberg, Theresa Scattergood, Michael R. Sperling
Publikováno v:
Nature Communications. London, United Kingdom: Nature Publishing Group (2018).
Nature communications, vol 9, iss 1
Hjalgrim, H, Møller, R S & The International League Against Epilepsy Consortium on Complex Epilepsies 2018, ' Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies ', Nature Communications, vol. 9, 5269 . https://doi.org/10.1038/s41467-018-07524-z
Nature Communications, Vol 9, Iss 1, Pp 1-15 (2018)
Nature Communications
Nature communications
The International League Against Epilepsy Consortium on Complex Epilepsies 2018, ' Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies ', Nature Communications, vol. 9, no. 1, 5269 . https://doi.org/10.1038/s41467-018-07524-z
Nature communications, 9 (1
Nat. Commun. 9:5269 (2018)
The International League Against Epilepsy, Consortium on Complex (2018). Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies. Nature communications, 9(1), p. 5269. Springer Nature 10.1038/s41467-018-07524-z
Nature communications, vol 9, iss 1
Hjalgrim, H, Møller, R S & The International League Against Epilepsy Consortium on Complex Epilepsies 2018, ' Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies ', Nature Communications, vol. 9, 5269 . https://doi.org/10.1038/s41467-018-07524-z
Nature Communications, Vol 9, Iss 1, Pp 1-15 (2018)
Nature Communications
Nature communications
The International League Against Epilepsy Consortium on Complex Epilepsies 2018, ' Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies ', Nature Communications, vol. 9, no. 1, 5269 . https://doi.org/10.1038/s41467-018-07524-z
Nature communications, 9 (1
Nat. Commun. 9:5269 (2018)
The International League Against Epilepsy, Consortium on Complex (2018). Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies. Nature communications, 9(1), p. 5269. Springer Nature 10.1038/s41467-018-07524-z
The epilepsies affect around 65 million people worldwide and have a substantial missing heritability component. We report a genome-wide mega-analysis involving 15,212 individuals with epilepsy and 29,677 controls, which reveals 16 genome-wide signifi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7b607d077bc96797c19615b63305779
http://orbilu.uni.lu/handle/10993/37681
http://orbilu.uni.lu/handle/10993/37681
Autor:
Patrick May, Simon Girard, Merle Harrer, Dheeraj R Bobbili, Julian Schubert, Stefan Wolking, Felicitas Becker, Pamela Lachance-Touchette, Caroline Meloche, Micheline Gravel, Cristina E Niturad, Julia Knaus, Carolien De Kovel, Mohamad Toliat, Anne Polvi, Michele Iacomino, Rosa Guerrero-López, Stéphanie Baulac, Carla Marini, Holger Thiele, Janine Altmüller, Kamel Jabbari, Ann-Kathrin Ruppert, Wiktor Jurkowski, Dennis Lal, Raffaella Rusconi, Sandrine Cestèle, Benedetta Terragni, Ian D Coombs, Christopher A Reid, Pasquale Striano, Hande Caglayan, Auli Siren, Kate Everett, Rikke S Møller, Helle Hjalgrim, Hiltrud Muhle, Ingo Helbig, Wolfram S Kunz, Yvonne G Weber, Sarah Weckhuysen, Peter De Jonghe, Sanjay M Sisodiya, Rima Nabbout, Silvana Franceschetti, Antonietta Coppola, Maria S Vari, Dorothée Kasteleijn-Nolst Trenité, Betul Baykan, Ugur Ozbek, Nerses Bebek, Karl M Klein, Felix Rosenow, Dang K Nguyen, François Dubeau, Lionel Carmant, Anne Lortie, Richard Desbiens, Jean-François Clément, Cécile Cieuta-Walti, Graeme J Sills, Pauls Auce, Ben Francis, Michael R Johnson, Anthony G Marson, Bianca Berghuis, Josemir W Sander, Andreja Avbersek, Mark McCormack, Gianpiero L Cavalleri, Norman Delanty, Chantal Depondt, Martin Krenn, Fritz Zimprich, Sarah Peter, Marina Nikanorova, Robert Kraaij, Jeroen van Rooij, Rudi Balling, M Arfan Ikram, André G Uitterlinden, Giuliano Avanzini, Stephanie Schorge, Steven Petrou, Massimo Mantegazza, Thomas Sander, Eric LeGuern, Jose M Serratosa, Bobby P C Koeleman, Aarno Palotie, Anna-Elina Lehesjoki, Michael Nothnagel, Peter Nürnberg, Snezana Maljevic, Federico Zara, Patrick Cossette, Roland Krause, Holger Lerche, Edoardo Ferlazzo, Carlo di Bonaventura, Angela La Neve, Paolo Tinuper, Francesca Bisulli, Aglaia Vignoli, Giuseppe Capovilla, Giovanni Crichiutti, Antonio Gambardella, Vincenzo Belcastro, Amedeo Bianchi, Destina Yalçın, Gulsen Dizdarer, Kezban Arslan, Zuhal Yapıcı, Demet Kuşcu, Costin Leu, Kristin Heggeli, Joseph Willis, Sarah R Langley, Andrea Jorgensen, Prashant Srivastava, Sarah Rau, Christian Hengsbach, Anja C.M. Sonsma
Publikováno v:
The Lancet Neurology
The Lancet Neurology, Elsevier, 2018, 17 (8), pp.699-708. ⟨10.1016/S1474-4422(18)30215-1⟩
Lancet Neurology, 17(8), 699-708. Lancet Publishing Group
EPICURE Consortium, EuroEPINOMICS CoGIE Consortium & EpiPGX Consortium 2018, ' Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies : an exome-based case-control study ', Lancet Neurology, vol. 17, no. 8, pp. 699-708 . https://doi.org/10.1016/S1474-4422(18)30215-1
The Lancet Neurology, 2018, 17 (8), pp.699-708. ⟨10.1016/S1474-4422(18)30215-1⟩
The lancet neurology
LANCET NEUROLOGY
The Lancet Neurology, 17(8), 699. Lancet Publishing Group
The Lancet Neurology, Elsevier, 2018, 17 (8), pp.699-708. ⟨10.1016/S1474-4422(18)30215-1⟩
Lancet Neurology, 17(8), 699-708. Lancet Publishing Group
EPICURE Consortium, EuroEPINOMICS CoGIE Consortium & EpiPGX Consortium 2018, ' Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies : an exome-based case-control study ', Lancet Neurology, vol. 17, no. 8, pp. 699-708 . https://doi.org/10.1016/S1474-4422(18)30215-1
The Lancet Neurology, 2018, 17 (8), pp.699-708. ⟨10.1016/S1474-4422(18)30215-1⟩
The lancet neurology
LANCET NEUROLOGY
The Lancet Neurology, 17(8), 699. Lancet Publishing Group
BACKGROUND: Genetic generalised epilepsy is the most common type of inherited epilepsy. Despite a high concordance rate of 80% in monozygotic twins, the genetic background is still poorly understood. We aimed to investigate the burden of rare genetic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f2a7ebc4483d5ba5e9aac0991ff234c
https://hal.archives-ouvertes.fr/hal-02352036
https://hal.archives-ouvertes.fr/hal-02352036
Autor:
Johannes R. Lemke, Pia Zacher, Thomas Dorn, Laura Hernandez-Hernandez, Natasha E. Schoeler, Stéphanie Baulac, Sara Baldassari, Anne de Saint Martin, Eleni Panagiotakaki, Anne Fabienne Lepine, Markus Wolff, Arnaud Biraben, Renske Oegema, Edouard Hirsch, Anna Jansen, Charles Deckers, Nienke E. Verbeek, Fabienne Picard, Georg Dorfmüller, Sarah Ferrand-Sorbets, Barbora Benova, Francesca Bisulli, Inga Talvik, Kristin Lindstrom, Tilman Polster, Douglas R. Nordli, Tommaso Pippucci, Eva H. Brilstra, Shifteh Sattar, Erik H. Niks, Marie Line Jacquemont, Kees P.J. Braun, Karen Müller-Schlüter, Sanjay M. Sisodiya, Sarah Weckhuysen, Lysa Boissé Lomax, Sophie Julia, Brigitte Ricard-Mousnier, Mathilde Chipaux, Laura Licchetta, Gaetan Lesca, Bianca Berghuis, S. Krithika, Jamel Chelly, Renzo Guerrini, Hélène Catenoix, Annapurna Poduri, Melanie Jennesson, Pasquale Striano, Rikke S. Møller, Antonio Gambardella, Guillaume Achaz, Peter Uldall, Fabrice Bartolomei, Giuseppe d'Orsi, Laurence Faivre, Floor E. Jansen, An Sofie Schoonjans, Kevin Rostasy, Thomas Becher, Pavel Krsek, Julien Thevenon, Marjan J. A. van Kempen, Guido Rubboli, Cécile Marchal, Meral Balci, Boudewijn Gunning, Ilona Krey, Julitta de Bellescize, Veronique Darmency, Christopher J. Yuskaitis, Daniëlle de Jong, Giovanni Crichiutti, Paolo Tinuper, Katrien Stouffs, Valentin Sander, Anne-Sophie Lebre, Thomas Cloppenborg, Valerio Conti, Gabrielle Rudolf, Courtney Kiss, Eveline Hagebeuk, Caroline Nava, Eric LeGuern, Ilse Wegner, Christian Brandt, Martin Zenker, Simona Balestrini
Publikováno v:
Genetics in Medicine (2018)
Genetics in medicine
Baldassari, S, Picard, F, Verbeek, N E, van Kempen, M, Brilstra, E H, Lesca, G, Conti, V, Guerrini, R, Bisulli, F, Licchetta, L, Pippucci, T, Tinuper, P, Hirsch, E, de Saint Martin, A, Chelly, J, Rudolf, G, Chipaux, M, Ferrand-Sorbets, S, Dorfmüller, G, Sisodiya, S, Balestrini, S, Schoeler, N, Hernandez-Hernandez, L, Krithika, S, Oegema, R, Hagebeuk, E, Gunning, B, Deckers, C, Berghuis, B, Wegner, I, Niks, E, Jansen, F E, Braun, K, de Jong, D, Rubboli, G, Talvik, I, Sander, V, Uldall, P, Jacquemont, M-L, Nava, C, Leguern, E, Julia, S, Gambardella, A, d'Orsi, G, Crichiutti, G, Faivre, L, Darmency, V, Benova, B, Krsek, P, Biraben, A, Lebre, A-S, Jennesson, M, Sattar, S, Marchal, C, Nordli, D R, Lindstrom, K, Striano, P, Lomax, L B, Kiss, C, Bartolomei, F, Lepine, A F, Schoonjans, A-S, Stouffs, K, Jansen, A, Panagiotakaki, E, Ricard-Mousnier, B, Thevenon, J, de Bellescize, J, Catenoix, H, Dorn, T, Zenker, M, Müller-Schlüter, K, Brandt, C, Krey, I, Polster, T, Wolff, M, Balci, M, Rostasy, K, Achaz, G, Zacher, P, Becher, T, Cloppenborg, T, Yuskaitis, C J, Weckhuysen, S, Poduri, A, Lemke, J R, Møller, R S & Baulac, S 2019, ' The landscape of epilepsy-related GATOR1 variants ', Genetics In Medicine, vol. 21, no. 2, pp. 398-408 . https://doi.org/10.1038/s41436-018-0060-2
Genetics in Medicine
Baldassari, S, Picard, F, Verbeek, N E, van Kempen, M, Brilstra, E H, Lesca, G, Conti, V, Guerrini, R, Bisulli, F, Licchetta, L, Pippucci, T, Tinuper, P, Hirsch, E, de Saint Martin, A, Chelly, J, Rudolf, G, Chipaux, M, Ferrand-Sorbets, S, Dorfmüller, G, Sisodiya, S, Balestrini, S, Schoeler, N, Hernandez-Hernandez, L, Krithika, S, Oegema, R, Hagebeuk, E, Gunning, B, Deckers, C, Berghuis, B, Wegner, I, Niks, E, Jansen, F E, Braun, K, de Jong, D, Rubboli, G, Talvik, I, Sander, V, Uldall, P, Jacquemont, M L, Nava, C, Leguern, E, Julia, S, Gambardella, A, d’Orsi, G, Crichiutti, G, Faivre, L, Darmency, V, Benova, B, Krsek, P, Biraben, A, Lebre, A S, Jennesson, M, Sattar, S, Marchal, C, Nordli, D R, Lindstrom, K, Striano, P, Lomax, L B, Kiss, C, Bartolomei, F, Lepine, A F, Schoonjans, A S, Stouffs, K, Jansen, A, Panagiotakaki, E, Ricard-Mousnier, B, Thevenon, J, de Bellescize, J, Catenoix, H, Dorn, T, Zenker, M, Müller-Schlüter, K, Brandt, C, Krey, I, Polster, T, Wolff, M, Balci, M, Rostasy, K, Achaz, G, Zacher, P, Becher, T, Cloppenborg, T, Yuskaitis, C J, Weckhuysen, S, Poduri, A, Lemke, J R, Møller, R S & Baulac, S 2019, ' The landscape of epilepsy-related GATOR1 variants ', Genetics in Medicine, vol. 21, no. 2, pp. 398-408 . https://doi.org/10.1038/s41436-018-0060-2
Genetics in Medicine, 21(2), 398. Lippincott Williams and Wilkins
Genetics in Medicine, Nature Publishing Group, 2019, 21 (2), pp.398-408. ⟨10.1038/s41436-018-0060-2⟩
Genetics in medicine : official journal of the American College of Medical Genetics
Genetics in medicine
Baldassari, S, Picard, F, Verbeek, N E, van Kempen, M, Brilstra, E H, Lesca, G, Conti, V, Guerrini, R, Bisulli, F, Licchetta, L, Pippucci, T, Tinuper, P, Hirsch, E, de Saint Martin, A, Chelly, J, Rudolf, G, Chipaux, M, Ferrand-Sorbets, S, Dorfmüller, G, Sisodiya, S, Balestrini, S, Schoeler, N, Hernandez-Hernandez, L, Krithika, S, Oegema, R, Hagebeuk, E, Gunning, B, Deckers, C, Berghuis, B, Wegner, I, Niks, E, Jansen, F E, Braun, K, de Jong, D, Rubboli, G, Talvik, I, Sander, V, Uldall, P, Jacquemont, M-L, Nava, C, Leguern, E, Julia, S, Gambardella, A, d'Orsi, G, Crichiutti, G, Faivre, L, Darmency, V, Benova, B, Krsek, P, Biraben, A, Lebre, A-S, Jennesson, M, Sattar, S, Marchal, C, Nordli, D R, Lindstrom, K, Striano, P, Lomax, L B, Kiss, C, Bartolomei, F, Lepine, A F, Schoonjans, A-S, Stouffs, K, Jansen, A, Panagiotakaki, E, Ricard-Mousnier, B, Thevenon, J, de Bellescize, J, Catenoix, H, Dorn, T, Zenker, M, Müller-Schlüter, K, Brandt, C, Krey, I, Polster, T, Wolff, M, Balci, M, Rostasy, K, Achaz, G, Zacher, P, Becher, T, Cloppenborg, T, Yuskaitis, C J, Weckhuysen, S, Poduri, A, Lemke, J R, Møller, R S & Baulac, S 2019, ' The landscape of epilepsy-related GATOR1 variants ', Genetics In Medicine, vol. 21, no. 2, pp. 398-408 . https://doi.org/10.1038/s41436-018-0060-2
Genetics in Medicine
Baldassari, S, Picard, F, Verbeek, N E, van Kempen, M, Brilstra, E H, Lesca, G, Conti, V, Guerrini, R, Bisulli, F, Licchetta, L, Pippucci, T, Tinuper, P, Hirsch, E, de Saint Martin, A, Chelly, J, Rudolf, G, Chipaux, M, Ferrand-Sorbets, S, Dorfmüller, G, Sisodiya, S, Balestrini, S, Schoeler, N, Hernandez-Hernandez, L, Krithika, S, Oegema, R, Hagebeuk, E, Gunning, B, Deckers, C, Berghuis, B, Wegner, I, Niks, E, Jansen, F E, Braun, K, de Jong, D, Rubboli, G, Talvik, I, Sander, V, Uldall, P, Jacquemont, M L, Nava, C, Leguern, E, Julia, S, Gambardella, A, d’Orsi, G, Crichiutti, G, Faivre, L, Darmency, V, Benova, B, Krsek, P, Biraben, A, Lebre, A S, Jennesson, M, Sattar, S, Marchal, C, Nordli, D R, Lindstrom, K, Striano, P, Lomax, L B, Kiss, C, Bartolomei, F, Lepine, A F, Schoonjans, A S, Stouffs, K, Jansen, A, Panagiotakaki, E, Ricard-Mousnier, B, Thevenon, J, de Bellescize, J, Catenoix, H, Dorn, T, Zenker, M, Müller-Schlüter, K, Brandt, C, Krey, I, Polster, T, Wolff, M, Balci, M, Rostasy, K, Achaz, G, Zacher, P, Becher, T, Cloppenborg, T, Yuskaitis, C J, Weckhuysen, S, Poduri, A, Lemke, J R, Møller, R S & Baulac, S 2019, ' The landscape of epilepsy-related GATOR1 variants ', Genetics in Medicine, vol. 21, no. 2, pp. 398-408 . https://doi.org/10.1038/s41436-018-0060-2
Genetics in Medicine, 21(2), 398. Lippincott Williams and Wilkins
Genetics in Medicine, Nature Publishing Group, 2019, 21 (2), pp.398-408. ⟨10.1038/s41436-018-0060-2⟩
Genetics in medicine : official journal of the American College of Medical Genetics
Purpose:\ud \ud To define the phenotypic and mutational spectrum of epilepsies related to DEPDC5, NPRL2 and NPRL3 genes encoding the GATOR1 complex, a negative regulator of the mTORC1 pathway.\ud \ud Methods:\ud \ud We analyzed clinical and genetic d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::981b64cbea60b6d54468d69c2530dcf1
https://archive-ouverte.unige.ch/unige:112563
https://archive-ouverte.unige.ch/unige:112563
Autor:
Patrick, May, Simon, Girard, Merle, Harrer, Dheeraj R, Bobbili, Julian, Schubert, Stefan, Wolking, Felicitas, Becker, Pamela, Lachance-Touchette, Caroline, Meloche, Micheline, Gravel, Cristina E, Niturad, Julia, Knaus, Carolien, De Kovel, Mohamad, Toliat, Anne, Polvi, Michele, Iacomino, Rosa, Guerrero-López, Stéphanie, Baulac, Carla, Marini, Holger, Thiele, Janine, Altmüller, Kamel, Jabbari, Ann-Kathrin, Ruppert, Wiktor, Jurkowski, Dennis, Lal, Raffaella, Rusconi, Sandrine, Cestèle, Benedetta, Terragni, Ian D, Coombs, Christopher A, Reid, Pasquale, Striano, Hande, Caglayan, Auli, Siren, Kate, Everett, Rikke S, Møller, Helle, Hjalgrim, Hiltrud, Muhle, Ingo, Helbig, Wolfram S, Kunz, Yvonne G, Weber, Sarah, Weckhuysen, Peter De, Jonghe, Sanjay M, Sisodiya, Rima, Nabbout, Silvana, Franceschetti, Antonietta, Coppola, Maria S, Vari, Dorothée, Kasteleijn-Nolst Trenité, Betul, Baykan, Ugur, Ozbek, Nerses, Bebek, Karl M, Klein, Felix, Rosenow, Dang K, Nguyen, François, Dubeau, Lionel, Carmant, Anne, Lortie, Richard, Desbiens, Jean-François, Clément, Cécile, Cieuta-Walti, Graeme J, Sills, Pauls, Auce, Ben, Francis, Michael R, Johnson, Anthony G, Marson, Bianca, Berghuis, Josemir W, Sander, Andreja, Avbersek, Mark, McCormack, Gianpiero L, Cavalleri, Norman, Delanty, Chantal, Depondt, Martin, Krenn, Fritz, Zimprich, Sarah, Peter, Marina, Nikanorova, Robert, Kraaij, Jeroen, van Rooij, Rudi, Balling, M Arfan, Ikram, André G, Uitterlinden, Giuliano, Avanzini, Stephanie, Schorge, Steven, Petrou, Massimo, Mantegazza, Thomas, Sander, Eric, LeGuern, Jose M, Serratosa, Bobby P C, Koeleman, Aarno, Palotie, Anna-Elina, Lehesjoki, Michael, Nothnagel, Peter, Nürnberg, Snezana, Maljevic, Federico, Zara, Patrick, Cossette, Roland, Krause, Holger, Lerche, Anja C M, Sonsma
Publikováno v:
The Lancet. Neurology. 17(8)
Genetic generalised epilepsy is the most common type of inherited epilepsy. Despite a high concordance rate of 80% in monozygotic twins, the genetic background is still poorly understood. We aimed to investigate the burden of rare genetic variants in
Autor:
Fieke Cox, Bianca Berghuis, Claudia Kamsma-Moerman, Jorien Van Hoey Smith, Janita Glastra-Zwiers
Publikováno v:
Epilepsie, periodiek voor professionals. 17:22
In 2017 verscheen de nieuwe ILAE epilepsieclassificatie (Scheffer et al., 2017), die mede dankzij de aandacht die hieraan werd besteed in dit blad (Roelfsema et al., 2017) en tijdens presentaties bij nascholingen, inmiddels algemeen bekend is bij neu
Autor:
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 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. NordliJr, Kristin Lindstrom, Pasquale Striano, Lysa Boissé Lomax, Courtney Kiss, Fabrice Bartolomei, Anne Fabienne 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
Publikováno v:
Genetics in Medicine
The original version of this Article contained an error in the author list where the corresponding author Stéphanie Baulac was repeated twice. This has now been corrected in the HTML, the PDF was correct at the time of publication.