Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes

Epi25 Collaborative; Schulze-Bonhage, Andreas; Hucks, Donald; Hakonarson, Hakon; Saarela, Anni; Tinuper, Paolo; Gabriel, Stacey; Korinthenberg, Rudolf; Barba, Carmen; Rojas, Enrique; Zizovic, Milena; Linnankivi, Tarja; Davis, Lea K.; Khoury, Jean; Inuzuka, Luciana Midori; Kesim, Yeşim; Schneider, Natascha; McGoldrick, Patricia; Wolf, Steven M.; Millichap, John J.; Kurlemann, Gerhard; Bosselmann, Christian; Cusick, Caroline; Häusler, Martin Georg; Kuzniecky, Ruben I.; Strzelczyk, Adam; Zara, Federico; French, Jacqueline A.; Kariuki, Symon M.; Rau, Sarah; Andrade, Danielle M.; Stewart, William C.; Korczyn, Amos D.; Haryanyan, Garen; Giangregorio, Tania; Cherian, Christina; Kanaan, Moien; Auce, Pauls; Papacostas, Savvas S.; Minardi, Raffaella; Grant, Riley; Ciullo, Valentina; De Jonghe, Peter; Bisulli, Francesca; Privitera, Michael; Cerrato, Felecia; Štěrbová, Katalin; Piras, Federica; Sedláčková, Lucie; Vetro, Annalisa; Baumgartner, Tobias H.; Lemke, Johannes R.; Bebek, Nerses; McArdle, Wendy; Arslan, Mutluay; Sammarra, Ilaria; Kok, Fernando; Scala, Marcello; Ishii, Atsushi; Bianchini, Claudia; Northstone, Kate; Timpson, Nicholas John; Lal, Dennis; Smoller, Jordan W.; Tsai, Meng-Han; Hengsbach, Christian; Solomonson, Matthew; Ryvlin, Philippe; Lowenstein, Daniel H.; Gauthier, Laura; Salman, Barış; Klein, Karl Martin; Krause, Roland; Li, Gloria Hoi-Yee; Annesi, Grazia; Powell, Robert H. W.; Koupparis, Andreas; Wagner, Ryan G.; Glauser, Tracy A.; Epstein, Leon; Kluger, Gerhard; Delanty, Norman; Lui, Colin H. T.; Vaidiswaran, Priya; Palotie, Aarno; Salpietro, Vincenzo; Marques, Paula; Salmon, Andrea; Busch, Robyn M.; Anderson, Alison; Kegele, Josua; Lacey, Austin; Lubbers, Laura; Labate, Angelo; Baker, Mark D.; Bartolomei, Fabrice; Owusu-Agyei, Seth; Schubert-Bast, Susanne; May, Patrick; Blackwood, Douglas; von Wrede, Randi; Mayer, Thomas; Piras, Fabrizio; Gambardella, Antonio; Kousiappa, Ioanna; Krey, Ilona; Gagliardi, Monica; von Spiczak, Sarah; Rees, Mark I.; Blatt, Ilan; Shiedley, Beth R.; Licchetta, Laura; Watts, Nick; Evans, Meghan; Borggräfe, Ingo; Becker, Felicitas; Ellis, Colin A.; Muccioli, Lorenzo; Chou, I.-Jun; Pinsky, Rebecca; Weber, Yvonne; von Brauchitsch, Sophie; Petrovski, Slavé; Schankin, Christoph J.; Vari, Maria Stella; King, Chontelle; Johnstone, Mandy; Dlugos, Dennis J.; Pickrell, William O.; Suzuki, Toshimitsu; Schaller, André; Di Vito, Lidia; Kara, Bulent; Michel, Véronique; Pippucci, Tommaso; Kunz, Wolfram S.; Fu, Jack M.; Sadleir, Lynette G.; Cotsapas, Chris; Sills, Graeme J.; Hegde, Manu; Scudieri, Paolo; Balestrini, Simona; Lesca, Gaetan; Lauxmann, Stephan; Reinthaler, Eva; Rosenow, Felix; Guerrini, Renzo; Beydoun, Ahmad; Topaloglu, Pınar; Cossette, Patrick; Neale, Benjamin M.; Wu, David; McCarroll, Steven M.; Rademacher, Annika; Doccini, Viola; Regan, Brigid M.; Ferraro, Thomas N.; Lewis-Smith, David; La Vega-Talbott, Maite; Shain, Catherine; Rheims, Sylvain; Zahnert, Felix; Gupta, Namrata; Pendziwiat, Manuela; Stipa, Carlotta; Sisodiya, Sanjay M.; Iacomino, Michele; Clark, Peggy O.; Noebels, Jeffrey L.; Khoueiry-Zgheib, Nathalie; Brockmann, Knut; Magri, Stefania; Timonen, Oskari; Lin, Chih-Hsiang; Fortunato, Francesco; Canafoglia, Laura; McQuillan, Andrew; Pato, Michele; Novod, Sam; Cheung, Ching-Lung; Marson, Anthony G.; Balagura, Ganna; Tanteles, George A.; Lin, Kuang-Lin; McGraw, Christopher M.; Brand, Harrison; Pondrelli, Federica; Vlčková, Markéta; Wolff, Markus; Cherny, Stacey S.; Goldberg, Ethan; Surges, Rainer; Macedo-Souza, Lucia Inês; Taneja, Randip S.; Chung, Seo-Kyung; Bennett, Caitlin A.; Mei, Davide; Kwan, Patrick; Sham, Pak C.; Chassoux, Francine; Bass, Nick; Hung, Po-Chen; Daly, Mark J.; Franceschetti, Silvana; Helbig, Ingo; Montomoli, Martino; Raynes, Hillary R.; Ho, Chen-Jui; Kälviäinen, Reetta; Striano, Pasquale; Reif, Andreas; Feng, Yen-Chen Anne; Derambure, Philippe; Weckhuysen, Sarah; Leu, Costin; Pinto, Dalila; Lawthom, Charlotte; Müller-Schlüter, Karen; Johnson, Michael R.; Lehesjoki, Anna-Elina; Gili, Tommaso; Spalletta, Gianfranco; Madia, Francesca; Nasreddine, Wassim; Newton, Charles R. J. C.; Dennig, Dieter; Riva, Antonella; Heinzen, Erin L.; Pennell, Page B.; Sparks, Kathryn R.; Devinsky, Orrin; Cosico, Mahgenn; Ferguson, Lisa; Heyne, Henrike; Churchhouse, Claire; Fitzgerald, Mark; Caglayan, S. Hande; O'Brien, Terence J.; Liao, Calwing; Krestel, Heinz; Da Silva, Izabela Ferreira; Yis, Uluc; Ring, Susan M.; Faucon, Annika; Steinhoff, Bernhard J.; Zagaglia, Sara; Parrini, Elena; El-Naggar, Hany; Chen, Siwei; Haas, Kevin; Marcuse, Lara; Ali, Quratulain Zulfiqar; Madeleyn, Rene; Stephani, Ulrich; Özkara, Çiğdem; Goldman, Alica; Wiebe, Samuel; Tumiene, Birute; Neubauer, Bernd A.; Talarico, Mariagrazia; Gundogdu-Eken, Aslı; Maillard, Louis; Baum, Larry W.; Greenberg, David A.; Buono, Russell J.; Lowther, Chelsea; Zsurka, Gábor; Neaves, Samuel; Jehi, Lara; Canavati, Christina; Baykan, Betül; Anderson, Joe; Meador, Kimford J.; Knake, Susanne; Bahlo, Melanie; Widdess-Walsh, Peter; Najm, Imad M.; Scheffer, Ingrid E.; Yolken, Robert; Schachter, Steven; Braatz, Vera; Afawi, Zaid; Hoeper, Olivia; McIntosh, Andrew; Abou-Khalil, Bassel W.; Siena, S. Anthony; Ramirez-Hamouz, Byron; Utkus, Algirdas; Freri, Elena; Stamberger, Hannah; Castellotti, Barbara; Pato, Carlos; van Baalen, Andreas; Dickerson, Faith; Turkdogan, Dilsad; Uğur-İşeri, Sibel; Fonferko-Shadrach, Beata; Ferri, Lorenzo; Cole, Andrew J.; Muhle, Hiltrud; Lo, Warren; Posthuma, Danielle; Krenn, Martin; Granata, Tiziana; Lerche, Holger; Laššuthová, Petra; Hirose, Shinichi; Poduri, Annapurna; Ragona, Francesca; Goldstein, David B.; Howrigan, Daniel P.; Inoue, Yushi; Wong, Isaac; Zimprich, Fritz; Fields, Madeline C.; Leech, Stephanie L.; Hirsch, Edouard; Banks, Eric; Yücesan, Emrah; Matthews, Abigail G.; Valton, Luc; Yamakawa, Kazuhiro; Barboza, Karen; Depondt, Chantal; Feucht, Martha; Mostacci, Barbara; Amadori, Elisabetta; Talkowski, Michael E.; Yapıcı, Zuhal; Doherty, Colin P.; Wolking, Stefan; Sperling, Michael R.; Cavalleri, Gianpiero L.; Lewin, Naomi; Todaro, Marian; Berkovic, Samuel F.

doi:openalex:W4321780318

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes

Epi25 Collaborative (Collaboration author) ; Chen, Siwei ; Abou-Khalil, Bassel W. ; Afawi, Zaid ; Ali, Quratulain Zulfiqar ; Amadori, Elisabetta ; Anderson, Alison ; Anderson, Joe ; Andrade, Danielle M. ; Annesi, Grazia ; Arslan, Mutluay ; Auce, Pauls ; Bahlo, Melanie ; Baker, Mark D. ; Balagura, Ganna ; Balestrini, Simona ; Banks, Eric ; Barba, Carmen ; Barboza, Karen ; Bartolomei, Fabrice ; Bass, Nick ; Baum, Larry W. ; Baumgartner, Tobias H. ; Baykan, Betül ; Bebek, Nerses ; Becker, Felicitas ; Bennett, Caitlin A. ; Beydoun, Ahmad ; Bianchini, Claudia ; Bisulli, Francesca ; Blackwood, Douglas ; Blatt, Ilan ; Borggräfe, Ingo ; Bosselmann, Christian ; Braatz, Vera ; Brand, Harrison ; Brockmann, Knut ; Buono, Russell J. ; Busch, Robyn M. ; Caglayan, S. Hande ; Canafoglia, Laura ; Canavati, Christina ; Castellotti, Barbara ; Cavalleri, Gianpiero L. ; Cerrato, Felecia ; Chassoux, Francine ; Cherian, Christina ; Cherny, Stacey S. ; Cheung, Ching-Lung ; Chou, I.-Jun ; Chung, Seo-Kyung ; Churchhouse, Claire ; Ciullo, Valentina ; Clark, Peggy O. ; Cole, Andrew J. ; Cosico, Mahgenn ; Cossette, Patrick ; Cotsapas, Chris ; Cusick, Caroline ; Daly, Mark J. ; Davis, Lea K. ; De Jonghe, Peter ; Delanty, Norman ; Dennig, Dieter ; Depondt, Chantal ; Derambure, Philippe ; Devinsky, Orrin ; Di Vito, Lidia ; Dickerson, Faith ; Dlugos, Dennis J. ; Doccini, Viola ; Doherty, Colin P. ; El-Naggar, Hany ; Ellis, Colin A. ; Epstein, Leon ; Evans, Meghan ; Faucon, Annika ; Feng, Yen-Chen Anne ; Ferguson, Lisa ; Ferraro, Thomas N. ; Da Silva, Izabela Ferreira ; Ferri, Lorenzo ; Feucht, Martha ; Fields, Madeline C. ; Fitzgerald, Mark ; Fonferko-Shadrach, Beata ; Fortunato, Francesco ; Franceschetti, Silvana ; French, Jacqueline A. ; Freri, Elena ; Fu, Jack M. ; Gabriel, Stacey ; Gagliardi, Monica ; Gambardella, Antonio ; Gauthier, Laura ; Giangregorio, Tania ; Gili, Tommaso ; Glauser, Tracy A. ; Goldberg, Ethan ; Goldman, Alica ; Goldstein, David B. ; Granata, Tiziana ; Grant, Riley ; Greenberg, David A. ; Guerrini, Renzo ; Gundogdu-Eken, Aslı ; Gupta, Namrata ; Haas, Kevin ; Hakonarson, Hakon ; Haryanyan, Garen ; Häusler, Martin Georg^RWTH* ; Hegde, Manu ; Heinzen, Erin L. ; Helbig, Ingo ; Hengsbach, Christian ; Heyne, Henrike ; Hirose, Shinichi ; Hirsch, Edouard ; Ho, Chen-Jui ; Hoeper, Olivia ; Howrigan, Daniel P. ; Hucks, Donald ; Hung, Po-Chen ; Iacomino, Michele ; Inoue, Yushi ; Inuzuka, Luciana Midori ; Ishii, Atsushi ; Jehi, Lara ; Johnson, Michael R. ; Johnstone, Mandy ; Kälviäinen, Reetta ; Kanaan, Moien ; Kara, Bulent ; Kariuki, Symon M. ; Kegele, Josua ; Kesim, Yeşim ; Khoueiry-Zgheib, Nathalie ; Khoury, Jean ; King, Chontelle ; Klein, Karl Martin ; Kluger, Gerhard ; Knake, Susanne ; Kok, Fernando ; Korczyn, Amos D. ; Korinthenberg, Rudolf ; Koupparis, Andreas ; Kousiappa, Ioanna ; Krause, Roland ; Krenn, Martin ; Krestel, Heinz ; Krey, Ilona ; Kunz, Wolfram S. ; Kurlemann, Gerhard ; Kuzniecky, Ruben I. ; Kwan, Patrick ; La Vega-Talbott, Maite ; Labate, Angelo ; Lacey, Austin ; Lal, Dennis ; Laššuthová, Petra ; Lauxmann, Stephan ; Lawthom, Charlotte ; Leech, Stephanie L. ; Lehesjoki, Anna-Elina ; Lemke, Johannes R. ; Lerche, Holger ; Lesca, Gaetan ; Leu, Costin ; Lewin, Naomi ; Lewis-Smith, David ; Li, Gloria Hoi-Yee ; Liao, Calwing ; Licchetta, Laura ; Lin, Chih-Hsiang ; Lin, Kuang-Lin ; Linnankivi, Tarja ; Lo, Warren ; Lowenstein, Daniel H. ; Lowther, Chelsea ; Lubbers, Laura ; Lui, Colin H. T. ; Macedo-Souza, Lucia Inês ; Madeleyn, Rene ; Madia, Francesca ; Magri, Stefania ; Maillard, Louis ; Marcuse, Lara ; Marques, Paula ; Marson, Anthony G. ; Matthews, Abigail G. ; May, Patrick ; Mayer, Thomas ; McArdle, Wendy ; McCarroll, Steven M. ; McGoldrick, Patricia ; McGraw, Christopher M. ; McIntosh, Andrew ; McQuillan, Andrew ; Meador, Kimford J. ; Mei, Davide ; Michel, Véronique ; Millichap, John J. ; Minardi, Raffaella ; Montomoli, Martino ; Mostacci, Barbara ; Muccioli, Lorenzo ; Muhle, Hiltrud ; Müller-Schlüter, Karen ; Najm, Imad M. ; Nasreddine, Wassim ; Neaves, Samuel ; Neubauer, Bernd A. ; Newton, Charles R. J. C. ; Noebels, Jeffrey L. ; Northstone, Kate ; Novod, Sam ; O'Brien, Terence J. ; Owusu-Agyei, Seth ; Özkara, Çiğdem ; Palotie, Aarno ; Papacostas, Savvas S. ; Parrini, Elena ; Pato, Carlos ; Pato, Michele ; Pendziwiat, Manuela ; Pennell, Page B. ; Petrovski, Slavé ; Pickrell, William O. ; Pinsky, Rebecca ; Pinto, Dalila ; Pippucci, Tommaso ; Piras, Fabrizio ; Piras, Federica ; Poduri, Annapurna ; Pondrelli, Federica ; Posthuma, Danielle ; Powell, Robert H. W. ; Privitera, Michael ; Rademacher, Annika ; Ragona, Francesca ; Ramirez-Hamouz, Byron ; Rau, Sarah ; Raynes, Hillary R. ; Rees, Mark I. ; Regan, Brigid M. ; Reif, Andreas ; Reinthaler, Eva ; Rheims, Sylvain ; Ring, Susan M. ; Riva, Antonella ; Rojas, Enrique ; Rosenow, Felix ; Ryvlin, Philippe ; Saarela, Anni ; Sadleir, Lynette G. ; Salman, Barış ; Salmon, Andrea ; Salpietro, Vincenzo ; Sammarra, Ilaria ; Scala, Marcello ; Schachter, Steven ; Schaller, André ; Schankin, Christoph J. ; Scheffer, Ingrid E. ; Schneider, Natascha ; Schubert-Bast, Susanne ; Schulze-Bonhage, Andreas ; Scudieri, Paolo ; Sedláčková, Lucie ; Shain, Catherine ; Sham, Pak C. ; Shiedley, Beth R. ; Siena, S. Anthony ; Sills, Graeme J. ; Sisodiya, Sanjay M. ; Smoller, Jordan W. ; Solomonson, Matthew ; Spalletta, Gianfranco ; Sparks, Kathryn R. ; Sperling, Michael R. ; Stamberger, Hannah ; Steinhoff, Bernhard J. ; Stephani, Ulrich ; Štěrbová, Katalin ; Stewart, William C. ; Stipa, Carlotta ; Striano, Pasquale ; Strzelczyk, Adam ; Surges, Rainer ; Suzuki, Toshimitsu ; Talarico, Mariagrazia ; Talkowski, Michael E. ; Taneja, Randip S. ; Tanteles, George A. ; Timonen, Oskari ; Timpson, Nicholas John ; Tinuper, Paolo ; Todaro, Marian ; Topaloglu, Pınar ; Tsai, Meng-Han ; Tumiene, Birute ; Turkdogan, Dilsad ; Uğur-İşeri, Sibel ; Utkus, Algirdas ; Vaidiswaran, Priya ; Valton, Luc ; van Baalen, Andreas ; Vari, Maria Stella ; Vetro, Annalisa ; Vlčková, Markéta ; von Brauchitsch, Sophie ; von Spiczak, Sarah ; Wagner, Ryan G. ; Watts, Nick ; Weber, Yvonne^RWTH* ; Weckhuysen, Sarah ; Widdess-Walsh, Peter ; Wiebe, Samuel ; Wolf, Steven M. ; Wolff, Markus ; Wolking, Stefan^RWTH* ; Wong, Isaac ; von Wrede, Randi ; Wu, David ; Yamakawa, Kazuhiro ; Yapıcı, Zuhal ; Yis, Uluc ; Yolken, Robert ; Yücesan, Emrah ; Zagaglia, Sara ; Zahnert, Felix ; Zara, Federico ; Zimprich, Fritz ; Zizovic, Milena ; Zsurka, Gábor ; Neale, Benjamin M. (Corresponding author) ; Berkovic, Samuel F. (Corresponding author)

2024

Umfang48 Seiten

Online
DOI: 10.1101/2023.02.22.23286310
10.1101/2023.02.22.23286310
DOI: 10.18154/RWTH-CONV-254070
URL: https://publications.rwth-aachen.de/record/1007717/files/1007717.pdf

Einrichtungen

OpenAccess:
PDF

Dokumenttyp
Preprint

Format
online

Sprache
English

Externe Identnummern
OpenAlex: W4321780318

Interne Identnummern
RWTH-CONV-254070
Datensatz-ID: 1007717

Beteiligte Länder
Australia, Austria, Belgium, Brazil, Canada, Cyprus, Czech Republic, Finland, France, Germany, Ghana, Hong Kong, Ireland, Israel, Italy, Japan, Kenya, Lebanon, Lithuania, Luxembourg, Netherlands, New Zealand, South Africa, Sweden, Switzerland, Taiwan, Turkey, UK, USA