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Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study

by May, Patrick, Girard, Simon, Harrer, Merle, Bobbili, Dheeraj R, Schubert, Julian, Wolking, Stefan, Lachance-Touchette, Pamela, Meloche, Caroline, Gravel, Micheline, Niturad, Cristina E, Knaus, Julia, De Kovel, Carolien, Toliat, Mohamad, Polvi, Anne, Iacomino, Michele, Baulac, Stéphanie, Marini, Carla, Thiele, Holger, Jabbari, Kamel, Ruppert, Ann-Kathrin, Lal, Dennis, Cestèle, Sandrine, Reid, Christopher A, Striano, Pasquale, Caglayan, Hande, Siren, Auli, Muhle, Hiltrud, Helbig, Ingo, Kunz, Wolfram S, Weber, Yvonne G, Weckhuysen, Sarah, Sisodiya, Sanjay M, Nabbout, Rima, Coppola, Antonietta, Vari, Maria S, Kasteleijn-Nolst Trenité, Dorothée, Baykan, Betul, Ozbek, Ugur, Bebek, Nerses, Klein, Karl M, Rosenow, Felix, Nguyen, Dang K, Dubeau, François, Carmant, Lionel, Desbiens, Richard, Cieuta-Walti, Cécile, Sills, Graeme J, Auce, Pauls, Johnson, Michael R, Marson, Anthony G, Berghuis, Bianca, Avbersek, Andreja, McCormack, Mark, Delanty, Norman, Depondt, Chantal, Zimprich, Fritz, Peter, Sarah, van Rooij, Jeroen, Ikram, M Arfan, Avanzini, Giuliano, Mantegazza, Massimo, Sander, Thomas, LeGuern, Eric, Serratosa, Jose M, Koeleman, Bobby P C, Palotie, Aarno, Lehesjoki, Anna-Elina, Nothnagel, Michael, Nürnberg, Peter, Maljevic, Snezana, Zara, Federico, Cossette, Patrick, Krause, Roland, Lerche, Holger, May, Patrick, Girard, Simon, Bobbili, Dheeraj R, Schubert, Julian, Arfan Ikram, M, Maljevic, Snezana, Cossette, Patrick, Lerche, Holger, Ferlazzo, Edoardo, La Neve, Angela, Vignoli, Aglaia, Crichiutti, Giovanni, Gambardella, Antonio, Belcastro, Vincenzo, Bianchi, Amedeo, Yalçın, Destina, Dizdarer, Gulsen, Arslan, Kezban, Yapıcı, Zuhal, Kuşcu, Demet, Leu, Costin, Heggeli, Kristin, Willis, Joseph, Jorgensen, Andrea, Srivastava, Prashant, Rau, Sarah
Published in Lancet neurology (01.08.2018)

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Rare coding variants in genes encoding GABA A receptors in genetic generalised epilepsies: an exome-based case-control study

by May, Patrick, Girard, Simon, Harrer, Merle, Bobbili, Dheeraj R, Schubert, Julian, Wolking, Stefan, Becker, Felicitas, Lachance-Touchette, Pamela, Meloche, Caroline, Gravel, Micheline, Niturad, Cristina E, Knaus, Julia, De Kovel, Carolien, Toliat, Mohamad, Polvi, Anne, Iacomino, Michele, Guerrero-López, Rosa, Baulac, Stéphanie, Marini, Carla, Thiele, Holger, Altmüller, Janine, Jabbari, Kamel, Ruppert, Ann-Kathrin, Jurkowski, Wiktor, Lal, Dennis, Rusconi, Raffaella, Cestèle, Sandrine, Terragni, Benedetta, Coombs, Ian D, Reid, Christopher A, Striano, Pasquale, Caglayan, Hande, Siren, Auli, Everett, Kate, Møller, Rikke S, Hjalgrim, Helle, Muhle, Hiltrud, Helbig, Ingo, Kunz, Wolfram S, Weber, Yvonne G, Weckhuysen, Sarah, Jonghe, Peter De, Sisodiya, Sanjay M, Nabbout, Rima, Franceschetti, Silvana, Coppola, Antonietta, Vari, Maria S, Kasteleijn-Nolst Trenité, Dorothée, Baykan, Betul, Ozbek, Ugur, Bebek, Nerses, Klein, Karl M, Rosenow, Felix, Nguyen, Dang K, Dubeau, François, Carmant, Lionel, Lortie, Anne, Desbiens, Richard, Clément, Jean-François, Cieuta-Walti, Cécile, Sills, Graeme J, Auce, Pauls, Francis, Ben, Johnson, Michael R, Marson, Anthony G, Berghuis, Bianca, Sander, Josemir W, Avbersek, Andreja, McCormack, Mark, Cavalleri, Gianpiero L, Delanty, Norman, Depondt, Chantal, Krenn, Martin, Zimprich, Fritz, Peter, Sarah, Nikanorova, Marina, Kraaij, Robert, van Rooij, Jeroen, Balling, Rudi, Ikram, M Arfan, Uitterlinden, André G, Avanzini, Giuliano, Schorge, Stephanie, Petrou, Steven, Mantegazza, Massimo, Sander, Thomas, LeGuern, Eric, Serratosa, Jose M, Koeleman, Bobby P C, Palotie, Aarno, Lehesjoki, Anna-Elina, Nothnagel, Michael, Nürnberg, Peter, Maljevic, Snezana, Zara, Federico, Cossette, Patrick, Krause, Roland, Lerche, Holger
Published in Lancet neurology (01.08.2018)

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Association of ultra‐rare coding variants with genetic generalized epilepsy: A case–control whole exome sequencing study

by Stanley, Kate E., Bobbili, Dheeraj R., Dhindsa, Ryan S., May, Patrick, Alldredge, Brian K., Allen, Andrew S., Altmüller, Janine, Amrom, Dina, Andermann, Eva, Auce, Pauls, Avbersek, Andreja, Bautista, Jocelyn F., Becker, Felicitas, Bellows, Susannah T., Berghuis, Bianca, Bluvstein, Judith, Boro, Alex, Burgess, Rosemary, Caglayan, Hande, Cascino, Gregory D., Chung, Seo‐Kyung, Cieuta‐Walti, Cécile, Consalvo, Damian, Cossette, Patrick, Crumrine, Patricia, Delanty, Norman, Depondt, Chantal, Desbiens, Richard, Dlugos, Dennis, Epstein, Michael P., Everett, Kate, Fountain, Nathan B., Francis, Ben, French, Jacqueline, Friedman, Daniel, Geller, Eric B., Girard, Simon, Glauser, Tracy, Glynn, Simon, Gravel, Micheline, Haas, Kevin, Haut, Sheryl R., Heinzen, Erin L., Helbig, Ingo, Hildebrand, Michael S., Jorgensen, Andrea, Joshi, Sucheta, Kirsch, Heidi E., Knowlton, Robert C., Koeleman, Bobby P. C., Kossoff, Eric H., Krause, Roland, Kunz, Wolfram S., Langley, Sarah R., LeGuern, Eric, Lerche, Holger, Leu, Costin, Lortie, Anne, Marson, Anthony G., Mebane, Caroline, Mefford, Heather C., Meloche, Caroline, Motika, Paul V., Muhle, Hiltrud, Nabbout, Rima, Nguyen, Dang K., Nikanorova, Marina, Novotny, Edward J., Ottman, Ruth, O’Brien, Terence J., Paolicchi, Juliann M., Parent, Jack M., Peter, Sarah, Petrou, Steven, Pickrell, William O., Poduri, Annapurna, Radtke, Rodney A., Rees, Mark I., Regan, Brigid M., Sadleir, Lynette G., Sander, Josemir W., Sander, Thomas, Scheffer, Ingrid E., Singh, Rani K., Sirven, Joseph, Sisodiya, Sanjay M., Smith, Michael C., Sonsma, Anja C. M., Sullivan, Joseph, Thio, Liu Lin, Thomas, Rhys H., Venkat, Anu, Von Allmen, Gretchen K., Wang, Quanli, Weber, Yvonne G., Weckhuysen, Sarah, Widdess‐Walsh, Peter, Winawer, Melodie R., Wolking, Stefan, Zimprich, Fritz
Published in Epilepsia (Copenhagen) (01.03.2022)

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

by 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, Jonghe, Peter De, 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
Published in medRxiv : the preprint server for health sciences (20.09.2024)
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