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Stevelink, Remi
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Campbell, Ciaran
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Chen, Siwei
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Abou-Khalil, Bassel
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Adesoji, Oluyomi M.
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Afawi, Zaid
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Amadori, Elisabetta
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Anderson, Alison
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Anderson, Joseph
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Andrade, Danielle M.
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Annesi, Grazia
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Auce, Pauls
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Avbersek, Andreja
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Bahlo, Melanie
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Baker, Mark D.
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Balagura, Ganna
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Balestrini, Simona
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Barba, Carmen
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Barboza, Karen
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Bartolomei, Fabrice
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Bast, Thomas
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Baum, Larry
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Baumgartner, Tobias
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Baykan, Betul
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Bebek, Nerses
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Becker, Albert J.
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Becker, Felicitas
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Bennett, Caitlin A.
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Berghuis, Bianca
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Berkovic, Samuel F.
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Beydoun, Ahmad
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Bianchini, Claudia
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Bisulli, Francesca
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Blatt, Ilan
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Bobbili, Dheeraj R.
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Borggraefe, Ingo
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Bosselmann, Christian
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Braatz, Vera
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Bradfield, Jonathan P.
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Brockmann, Knut
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Brody, Lawrence C.
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Buono, Russell J.
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Busch, Robyn M.
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Caglayan, Hande
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Campbell, Ellen
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Canafoglia, Laura
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Canavati, Christina
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Cascino, Gregory D.
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Castellotti, Barbara
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Catarino, Claudia B.
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Cavalleri, Gianpiero L.
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Cerrato, Felecia
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Chassoux, Francine
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Cherny, Stacey S.
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Cheung, Ching-Lung
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Chinthapalli, Krishna
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Chou, I-Jun
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Chung, Seo-Kyung
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Churchhouse, Claire
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Clark, Peggy O.
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Cole, Andrew J.
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Compston, Alastair
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Coppola, Antonietta
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Cosico, Mahgenn
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Cossette, Patrick
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Craig, John J.
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Cusick, Caroline
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Daly, Mark J.
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Davis, Lea K.
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de Haan, Gerrit-Jan
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Delanty, Norman
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Depondt, Chantal
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Derambure, Philippe
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Devinsky, Orrin
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Di Vito, Lidia
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Dlugos, Dennis J.
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Doccini, Viola
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Doherty, Colin P.
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El-Naggar, Hany
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Elger, Christian E.
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Ellis, Colin A.
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Eriksson, Johan G.
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Faucon, Annika
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Feng, Yen-Chen A.
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Ferguson, Lisa
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Ferraro, Thomas N.
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Ferri, Lorenzo
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Feucht, Martha
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Fitzgerald, Mark
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Fonferko-Shadrach, Beata
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Fortunato, Francesco
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Franceschetti, Silvana
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Franke, Andre
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French, Jacqueline A.
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Freri, Elena
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Gagliardi, Monica
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Gambardella, Antonio
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Geller, Eric B.
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Giangregorio, Tania
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Gjerstad, Leif
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Glauser, Tracy
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Goldberg, Ethan
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Goldman, Alicia
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Granata, Tiziana
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Greenberg, David A.
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Guerrini, Renzo
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Gupta, Namrata
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Haas, Kevin F.
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Hakonarson, Hakon
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Hallmann, Kerstin
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Hassanin, Emadeldin
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Hegde, Manu
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Heinzen, Erin L.
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Helbig, Ingo
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Hengsbach, Christian
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Heyne, Henrike O.
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Hirose, Shinichi
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Hirsch, Edouard
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Hjalgrim, Helle
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Howrigan, Daniel P.
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Hucks, Donald
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Hung, Po-Cheng
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Iacomino, Michele
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Imbach, Lukas L.
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Inoue, Yushi
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Ishii, Atsushi
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Jamnadas-Khoda, Jennifer
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Jehi, Lara
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Johnson, Michael R.
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Kalviainen, Reetta
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Kamatani, Yoichiro
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Kanaan, Moien
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Kanai, Masahiro
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Kantanen, Anne-Mari
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Kara, Bulent
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Kariuki, Symon M.
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Kasperaviciute, Dalia
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Trenite, Dorothee Kasteleijn-Nolst
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Kato, Mitsuhiro
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Kegele, Josua
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Kesim, Yescommaim
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Khoueiry-Zgheib, Nathalie
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King, Chontelle
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Kirsch, Heidi E.
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Klein, Karl M.
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Kluger, Gerhard
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Knake, Susanne
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Knowlton, Robert C.
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Koeleman, Bobby P. C.
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Korczyn, Amos D.
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Koupparis, Andreas
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Kousiappa, Ioanna
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Krause, Roland
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Krenn, Martin
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Krestel, Heinz
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Krey, Ilona
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Kunz, Wolfram S.
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Kurki, Mitja I.
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Kurlemann, Gerhard
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Kuzniecky, Ruben
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Kwan, Patrick
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Labate, Angelo
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Lacey, Austin
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Lal, Dennis
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Landoulsi, Zied
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Lau, Yu-Lung
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Lauxmann, Stephen
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Leech, Stephanie L.
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Lehesjoki, Anna-Elina
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Lemke, Johannes R.
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Lerche, Holger
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Lesca, Gaetan
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Leu, Costin
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Lewin, Naomi
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Lewis-Smith, David
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Li, Gloria H. -Y.
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Li, Qingqin S.
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Licchetta, Laura
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Lin, Kuang-Lin
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Lindhout, Dick
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Linnankivi, Tarja
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Lopes-Cendes, Iscia
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Lowenstein, Daniel H.
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Lui, Colin H. T.
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Madia, Francesca
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Magnusson, Sigurdur
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Marson, Anthony G.
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May, Patrick
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McGraw, Christopher M.
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Mei, Davide
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Mills, James L.
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Minardi, Raffaella
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Mirza, Nasir
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Moller, Rikke S.
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Molloy, Anne M.
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Montomoli, Martino
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Mostacci, Barbara
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Muccioli, Lorenzo
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Muhle, Hiltrud
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Mueller-Schlueter, Karen
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Najm, Imad M.
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Nasreddine, Wassim
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Neale, Benjamin M.
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Neubauer, Bernd
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Newton, Charles R. J. C.
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Noethen, Markus M.
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Nothnagel, Michael
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Nuernberg, Peter
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O'Brien, Terence J.
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Okada, Yukinori
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Olafsson, Elias
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Oliver, Karen L.
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Ozkara, Cigdem
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Palotie, Aarno
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Pangilinan, Faith
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Papacostas, Savvas S.
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Parrini, Elena
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Pato, Carlos N.
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Pato, Michele T.
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Pendziwiat, Manuela
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Petrovski, Slave
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Pickrell, William O.
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Pinsky, Rebecca
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Pippucci, Tommaso
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Poduri, Annapurna
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Pondrelli, Federica
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Powell, Rob H. W.
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Privitera, Michael
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Rademacher, Annika
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Radtke, Rodney
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Ragona, Francesca
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Rau, Sarah
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Rees, Mark I.
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Regan, Brigid M.
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Reif, Philipp S.
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Rhelms, Sylvain
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Riva, Antonella
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Rosenow, Felix
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Ryvlin, Philippe
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Saarela, Anni
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Sadleir, Lynette G.
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Sander, Josemir W.
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Sander, Thomas
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Scala, Marcello
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Scattergood, Theresa
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Schachter, Steven C.
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Schankin, Christoph J.
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Scheffer, Ingrid E.
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Schmitz, Bettina
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Schoch, Susanne
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Schubert-Bast, Susanne
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Schulze-Bonhage, Andreas
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Scudieri, Paolo
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Sham, Pak
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Sheidley, Beth R.
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Shih, Jerry J.
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Sills, Graeme J.
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Sisodiya, Sanjay M.
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Smith, Michael C.
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Smith, Philip E.
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Sonsma, Anja C. M.
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Speed, Doug
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Sperling, Michael R.
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Stefansson, Hreinn
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Stefansson, Kari
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Steinhoff, Bernhard J.
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Stephani, Ulrich
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Stewart, William C.
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Stipa, Carlotta
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Striano, Pasquale
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Stroink, Hans
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Strzelczyk, Adam
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Surges, Rainer
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Suzuki, Toshimitsu
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Tan, K. Meng
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Taneja, R. S.
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Tanteles, George A.
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Tauboll, Erik
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Thio, Liu Lin
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Thomas, G. Neil
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Thomas, Rhys H.
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Timonen, Oskari
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Tinuper, Paolo
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Todaro, Marian
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Topaloglu, Pinar
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Tozzi, Rossana
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Tsai, Meng-Han
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Tumiene, Birute
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Turkdogan, Dilsad
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Unnsteinsdottir, Unnur
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Utkus, Algirdas
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Vaidiswaran, Priya
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Valton, Luc
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van Baalen, Andreas
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Vetro, Annalisa
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Vining, Eileen P. G.
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Visscher, Frank
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von Brauchitsch, Sophie
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von Wrede, Randi
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Wagner, Ryan G.
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Weber, Yvonne G.
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Weckhuysen, Sarah
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Weisenberg, Judith
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Weller, Michael
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Widdess-Walsh, Peter
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Wolff, Markus
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Wolking, Stefan
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Wu, David
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Yamakawa, Kazuhiro
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Yang, Wanling
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Yapici, Zuhal
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Yucesan, Emrah
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Zagaglia, Sara
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Zahnert, Felix
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Zara, Federico
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Zhou, Wei
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Zimprich, Fritz
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Zsurka, Gabor
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Ali, Quratulain Zulfiqar
Número total de Autores: 319
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| Tipo de documento: | Artigo Científico |
| Fonte: | Nature Genetics; v. 55, n. 9, p. 21-pg., 2023-09-01. |
| Resumo | |
Epilepsy is a highly heritable disorder affecting over 50 million people worldwide, of which about one-third are resistant to current treatments. Here we report a multi-ancestry genome-wide association study including 29,944 cases, stratified into three broad categories and seven subtypes of epilepsy, and 52,538 controls. We identify 26 genome-wide significant loci, 19 of which are specific to genetic generalized epilepsy (GGE). We implicate 29 likely causal genes underlying these 26 loci. SNP-based heritability analyses show that common variants explain between 39.6% and 90% of genetic risk for GGE and its subtypes. Subtype analysis revealed markedly different genetic architectures between focal and generalized epilepsies. Gene-set analyses of GGE signals implicate synaptic processes in both excitatory and inhibitory neurons in the brain. Prioritized candidate genes overlap with monogenic epilepsy genes and with targets of current antiseizure medications. Finally, we leverage our results to identify alternate drugs with predicted efficacy if repurposed for epilepsy treatment. (AU) | |
| Processo FAPESP: | 13/07559-3 - Instituto Brasileiro de Neurociência e Neurotecnologia - BRAINN |
| Beneficiário: | Fernando Cendes |
| Modalidade de apoio: | Auxílio à Pesquisa - Centros de Pesquisa, Inovação e Difusão - CEPIDs |