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

Title:	Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes
Authors:	Chen, Siwei^{Aff1, Aff2, Aff3}; Abou-Khalil, Bassel W.^Aff4; Afawi, Zaid^Aff5; Ali, Quratulain Zulfiqar^Aff6; Amadori, Elisabetta^Aff7; Anderson, Alison^{Aff8, Aff9}; Anderson, Joe^Aff10; Andrade, Danielle M.^Aff6; Annesi, Grazia^Aff11; Arslan, Mutluay^Aff12; Auce, Pauls^Aff13; Bahlo, Melanie^{Aff14, Aff15}; Baker, Mark D.^Aff16; Balagura, Ganna^Aff17; Balestrini, Simona^{Aff18, Aff19}; Banks, Eric^Aff20; Barba, Carmen^Aff21; Barboza, Karen^Aff6; Bartolomei, Fabrice^Aff22; Bass, Nick^Aff23; Baum, Larry W.^Aff24; Baumgartner, Tobias H.^Aff25; Baykan, Betül^Aff26; Bebek, Nerses^{Aff27, Aff28}; Becker, Felicitas^{Aff29, Aff30}; Bennett, Caitlin A.^Aff31; Beydoun, Ahmad^Aff32; Bianchini, Claudia^Aff21; Bisulli, Francesca^{Aff33, Aff34}; Blackwood, Douglas^Aff35; Blatt, Ilan^{Aff5, Aff36}; Borggräfe, Ingo^Aff37; Bosselmann, Christian^Aff29; Braatz, Vera^{Aff18, Aff19}; Brand, Harrison^{Aff2, Aff38, Aff39}; Brockmann, Knut^Aff40; Buono, Russell J.^{Aff41, Aff42, Aff43}; Busch, Robyn M.^{Aff44, Aff45, Aff46}; Caglayan, S. Hande^Aff47; Canafoglia, Laura^Aff48; Canavati, Christina^Aff49; Castellotti, Barbara^Aff50; Cavalleri, Gianpiero L.^{Aff51, Aff52}; Cerrato, Felecia^Aff1; Chassoux, Francine^Aff53; Cherian, Christina^Aff54; Cherny, Stacey S.^Aff55; Cheung, Ching-Lung^Aff56; Chou, I-Jun^Aff57; Chung, Seo-Kyung^{Aff16, Aff58, Aff59}; Churchhouse, Claire^{Aff1, Aff2, Aff3}; Ciullo, Valentina^{Aff60, Aff61}; Clark, Peggy O.^Aff62; Cole, Andrew J.^Aff63; Cosico, Mahgenn^{Aff41, Aff64}; Cossette, Patrick^Aff65; Cotsapas, Chris^Aff66; Cusick, Caroline^Aff1; Daly, Mark J.^{Aff1, Aff2, Aff3, Aff67}; Davis, Lea K.^{Aff68, Aff69, Aff70, Aff71}; Jonghe, Peter De^{Aff72, Aff73, Aff74}; Delanty, Norman^{Aff51, Aff52, Aff75}; Dennig, Dieter^Aff76; Depondt, Chantal^Aff77; Derambure, Philippe^Aff78; Devinsky, Orrin^Aff79; Vito, Lidia Di^Aff34; Dickerson, Faith^Aff80; Dlugos, Dennis J.^{Aff41, Aff81}; Doccini, Viola^Aff21; Doherty, Colin P.^{Aff52, Aff82}; El-Naggar, Hany^{Aff52, Aff75}; Ellis, Colin A.^Aff83; Epstein, Leon^Aff84; Evans, Meghan^Aff85; Faucon, Annika^Aff86; Feng, Yen-Chen Anne^{Aff1, Aff2, Aff87, Aff88, Aff89}; Ferguson, Lisa^Aff45; Ferraro, Thomas N.^{Aff42, Aff90}; Silva, Izabela Ferreira Da^Aff91; Ferri, Lorenzo^{Aff33, Aff34}; Feucht, Martha^Aff92; Fields, Madeline C.^Aff93; Fitzgerald, Mark^{Aff41, Aff64, Aff83}; Fonferko-Shadrach, Beata^Aff16; Fortunato, Francesco^Aff94; Franceschetti, Silvana^Aff95; French, Jacqueline A.^Aff79; Freri, Elena^Aff96; Fu, Jack M.^{Aff2, Aff38, Aff39}; Gabriel, Stacey^Aff2; Gagliardi, Monica^Aff11; Gambardella, Antonio^Aff94; Gauthier, Laura^Aff20; Giangregorio, Tania^Aff97; Gili, Tommaso^{Aff60, Aff98}; Glauser, Tracy A.^Aff62; Goldberg, Ethan^{Aff41, Aff64}; Goldman, Alica^Aff99; Goldstein, David B.^Aff100; Granata, Tiziana^Aff96; Grant, Riley^Aff2; Greenberg, David A.^Aff101; Guerrini, Renzo^{Aff21, Aff102}; Gundogdu-Eken, Aslı^Aff47; Gupta, Namrata^Aff2; Haas, Kevin^Aff4; Hakonarson, Hakon^Aff41; Haryanyan, Garen^Aff26; Häusler, Martin^Aff103; Hegde, Manu^Aff104; Heinzen, Erin L.^Aff105; Helbig, Ingo^{Aff41, Aff64, Aff83, Aff106, Aff107, Aff108}; Hengsbach, Christian^Aff29; Heyne, Henrike^{Aff2, Aff109}; Hirose, Shinichi^Aff110; Hirsch, Edouard^Aff111; Ho, Chen-Jui^Aff112; Hoeper, Olivia^Aff31; Howrigan, Daniel P.^{Aff1, Aff2, Aff3}; Hucks, Donald^{Aff68, Aff71}; Hung, Po-Chen^Aff57; Iacomino, Michele^Aff7; Inoue, Yushi^Aff113; Inuzuka, Luciana Midori^{Aff114, Aff115}; Ishii, Atsushi^Aff116; Jehi, Lara^{Aff45, Aff46}; Johnson, Michael R.^Aff117; Johnstone, Mandy^Aff35; Kälviäinen, Reetta^{Aff118, Aff119}; Kanaan, Moien^Aff49; Kara, Bulent^Aff120; Kariuki, Symon M.^{Aff121, Aff122, Aff123}; Kegele, Josua^Aff29; Kesim, Yeşim^Aff26; Khoueiry-Zgheib, Nathalie^Aff124; Khoury, Jean^{Aff45, Aff46}; King, Chontelle^Aff85; Klein, Karl Martin^{Aff54, Aff125, Aff126, Aff127, Aff128, Aff129, Aff130}; Kluger, Gerhard^{Aff131, Aff132}; Knake, Susanne^{Aff130, Aff133}; Kok, Fernando^{Aff115, Aff134}; Korczyn, Amos D.^Aff5; Korinthenberg, Rudolf^Aff135; Koupparis, Andreas^Aff136; Kousiappa, Ioanna^Aff136; Krause, Roland^Aff91; Krenn, Martin^Aff137; Krestel, Heinz^{Aff66, Aff138}; Krey, Ilona^Aff139; Kunz, Wolfram S.^{Aff25, Aff140}; Kurlemann, Gerhard^Aff141; Kuzniecky, Ruben I.^Aff142; Kwan, Patrick^{Aff8, Aff9, Aff143}; Vega-Talbott, Maite La^Aff93; Labate, Angelo^Aff144; Lacey, Austin^{Aff51, Aff52}; Lal, Dennis^{Aff44, Aff45}; Laššuthová, Petra^Aff145; Lauxmann, Stephan^Aff29; Lawthom, Charlotte^{Aff10, Aff16}; Leech, Stephanie L.^Aff31; Lehesjoki, Anna-Elina^{Aff146, Aff147}; Lemke, Johannes R.^Aff139; Lerche, Holger^Aff29; Lesca, Gaetan^Aff148; Leu, Costin^{Aff18, Aff44}; Lewin, Naomi^{Aff41, Aff64}; Lewis-Smith, David^{Aff41, Aff108, Aff149, Aff150}; Li, Gloria Hoi-Yee^Aff151; Liao, Calwing^{Aff1, Aff2, Aff3, Aff38}; Licchetta, Laura^Aff34; Lin, Chih-Hsiang^Aff112; Lin, Kuang-Lin^Aff57; Linnankivi, Tarja^{Aff152, Aff153, Aff154}; Lo, Warren^Aff155; Lowenstein, Daniel H.^Aff104; Lowther, Chelsea^{Aff2, Aff38, Aff39}; Lubbers, Laura^Aff156; Lui, Colin H. T.^Aff157; Macedo-Souza, Lucia Inês^Aff158; Madeleyn, Rene^Aff159; Madia, Francesca^Aff7; Magri, Stefania^Aff160; Maillard, Louis^Aff161; Marcuse, Lara^Aff93; Marques, Paula^Aff6; Marson, Anthony G.^Aff162; Matthews, Abigail G.^Aff163; May, Patrick^Aff91; Mayer, Thomas^Aff164; McArdle, Wendy^Aff165; McCarroll, Steven M.^{Aff1, Aff2, Aff166}; McGoldrick, Patricia^{Aff93, Aff167}; McGraw, Christopher M.^Aff63; McIntosh, Andrew^Aff35; McQuillan, Andrew^Aff23; Meador, Kimford J.^Aff168; Mei, Davide^Aff21; Michel, Véronique^Aff169; Millichap, John J.^Aff170; Minardi, Raffaella^Aff34; Montomoli, Martino^Aff21; Mostacci, Barbara^Aff34; Muccioli, Lorenzo^Aff33; Muhle, Hiltrud^Aff106; Müller-Schlüter, Karen^Aff171; Najm, Imad M.^{Aff45, Aff46}; Nasreddine, Wassim^Aff32; Neaves, Samuel^{Aff165, Aff172}; Neubauer, Bernd A.^Aff173; Newton, Charles R. J. C.^{Aff121, Aff122, Aff123, Aff174}; Noebels, Jeffrey L.^Aff99; Northstone, Kate^Aff165; Novod, Sam^Aff20; O’Brien, Terence J.^{Aff8, Aff9}; Owusu-Agyei, Seth^{Aff175, Aff176}; Özkara, Çiğdem^Aff177; Palotie, Aarno^{Aff1, Aff3, Aff63, Aff87, Aff178}; Papacostas, Savvas S.^Aff136; Parrini, Elena^{Aff21, Aff102}; Pato, Carlos^{Aff179, Aff180}; Pato, Michele^{Aff179, Aff180}; Pendziwiat, Manuela^{Aff106, Aff107}; Pennell, Page B.^Aff181; Petrovski, Slavé^{Aff8, Aff182}; Pickrell, William O.^{Aff16, Aff183}; Pinsky, Rebecca^Aff184; Pinto, Dalila^{Aff185, Aff186}; Pippucci, Tommaso^Aff97; Piras, Fabrizio^Aff60; Piras, Federica^Aff60; Poduri, Annapurna^Aff184; Pondrelli, Federica^Aff33; Posthuma, Danielle^Aff187; Powell, Robert H. W.^{Aff16, Aff183}; Privitera, Michael^Aff188; Rademacher, Annika^Aff106; Ragona, Francesca^Aff96; Ramirez-Hamouz, Byron^{Aff185, Aff186}; Rau, Sarah^Aff29; Raynes, Hillary R.^Aff93; Rees, Mark I.^{Aff16, Aff59}; Regan, Brigid M.^Aff31; Reif, Andreas^{Aff189, Aff190}; Reinthaler, Eva^Aff137; Rheims, Sylvain^{Aff191, Aff192}; Ring, Susan M.^{Aff165, Aff172}; Riva, Antonella^{Aff7, Aff17}; Rojas, Enrique^Aff84; Rosenow, Felix^{Aff129, Aff130, Aff133}; Ryvlin, Philippe^Aff193; Saarela, Anni^{Aff118, Aff119}; Sadleir, Lynette G.^Aff85; Salman, Barış^Aff28; Salmon, Andrea^Aff54; Salpietro, Vincenzo^Aff7; Sammarra, Ilaria^Aff11; Scala, Marcello^{Aff7, Aff17}; Schachter, Steven^Aff194; Schaller, André^Aff195; Schankin, Christoph J.^{Aff138, Aff196}; Scheffer, Ingrid E.^{Aff31, Aff197, Aff198}; Schneider, Natascha^{Aff18, Aff19}; Schubert-Bast, Susanne^{Aff129, Aff130, Aff199}; Schulze-Bonhage, Andreas^Aff200; Scudieri, Paolo^{Aff7, Aff17}; Sedláčková, Lucie^Aff145; Shain, Catherine^Aff184; Sham, Pak C.^Aff24; Shiedley, Beth R.^Aff184; Siena, S. Anthony^Aff201; Sills, Graeme J.^Aff202; Sisodiya, Sanjay M.^{Aff18, Aff19}; Smoller, Jordan W.^{Aff203, Aff204}; Solomonson, Matthew^{Aff2, Aff88}; Spalletta, Gianfranco^{Aff60, Aff205}; Sparks, Kathryn R.^Aff84; Sperling, Michael R.^Aff206; Stamberger, Hannah^{Aff72, Aff73, Aff74}; Steinhoff, Bernhard J.^Aff207; Stephani, Ulrich^Aff106; Štěrbová, Katalin^Aff145; Stewart, William C.^Aff101; Stipa, Carlotta^Aff34; Striano, Pasquale^{Aff7, Aff17}; Strzelczyk, Adam^{Aff129, Aff130, Aff133}; Surges, Rainer^Aff25; Suzuki, Toshimitsu^{Aff208, Aff209}; Talarico, Mariagrazia^Aff11; Talkowski, Michael E.^{Aff2, Aff38, Aff39}; Taneja, Randip S.^Aff4; Tanteles, George A.^Aff136; Timonen, Oskari^Aff119; Timpson, Nicholas John^{Aff165, Aff172}; Tinuper, Paolo^{Aff33, Aff34}; Todaro, Marian^{Aff8, Aff9}; Topaloglu, Pınar^Aff27; Tsai, Meng-Han^Aff112; Tumiene, Birute^{Aff210, Aff211}; Turkdogan, Dilsad^Aff212; Uğur-İşeri, Sibel^Aff28; Utkus, Algirdas^{Aff210, Aff211}; Vaidiswaran, Priya^{Aff41, Aff64}; Valton, Luc^Aff213; van Baalen, Andreas^Aff106; Vari, Maria Stella^Aff7; Vetro, Annalisa^Aff21; Vlčková, Markéta^Aff145; von Brauchitsch, Sophie^{Aff129, Aff130, Aff133}; von Spiczak, Sarah^{Aff106, Aff214}; Wagner, Ryan G.^{Aff215, Aff216, Aff217}; Watts, Nick^{Aff2, Aff88}; Weber, Yvonne G.^{Aff29, Aff218}; Weckhuysen, Sarah^{Aff72, Aff73, Aff74}; Widdess-Walsh, Peter^{Aff51, Aff52, Aff75}; Wiebe, Samuel^{Aff54, Aff125, Aff127, Aff219, Aff220}; Wolf, Steven M.^{Aff93, Aff167}; Wolff, Markus^Aff221; Wolking, Stefan^{Aff29, Aff218}; Wong, Isaac^{Aff2, Aff38}; von Wrede, Randi^Aff25; Wu, David^Aff86; Yamakawa, Kazuhiro^{Aff208, Aff209}; Yapıcı, Zuhal^Aff27; Yis, Uluc^Aff222; Yolken, Robert^Aff223; Yücesan, Emrah^Aff224; Zagaglia, Sara^{Aff18, Aff19}; Zahnert, Felix^{Aff130, Aff133}; Zara, Federico^{Aff7, Aff17}; Zimprich, Fritz^Aff137; Zizovic, Milena^Aff91; Zsurka, Gábor^{Aff25, Aff140}; Neale, Benjamin M.^{Aff1, Aff2, Aff3, IDIAu1_cor336}; Berkovic, Samuel F.^{Aff31, IDIAu1_cor337}
Source:	Nature Neuroscience. 27(10):1864-1879
Database:	Springer Nature Journals