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The landscape of epilepsy-related GATOR1 variants

by Baldassari, Sara, Picard, Fabienne, Verbeek, Nienke E., van Kempen, Marjan, Brilstra, Eva H., Lesca, Gaetan, Conti, Valerio, Guerrini, Renzo, Bisulli, Francesca, Licchetta, Laura, Pippucci, Tommaso, Tinuper, Paolo, Hirsch, Edouard, de Saint Martin, Anne, Chelly, Jamel, Rudolf, Gabrielle, Chipaux, Mathilde, Ferrand-Sorbets, Sarah, Dorfmüller, Georg, Sisodiya, Sanjay, Balestrini, Simona, Schoeler, Natasha, Hernandez-Hernandez, Laura, Krithika, S., Oegema, Renske, Hagebeuk, Eveline, Gunning, Boudewijn, Deckers, Charles, Berghuis, Bianca, Wegner, Ilse, Niks, Erik, Jansen, Floor E., Braun, Kees, de Jong, Daniëlle, Rubboli, Guido, Talvik, Inga, Sander, Valentin, Uldall, Peter, Jacquemont, Marie-Line, Nava, Caroline, Leguern, Eric, Julia, Sophie, Gambardella, Antonio, d’Orsi, Giuseppe, Crichiutti, Giovanni, Faivre, Laurence, Darmency, Veronique, Benova, Barbora, Krsek, Pavel, Biraben, Arnaud, Lebre, Anne-Sophie, Jennesson, Mélanie, Sattar, Shifteh, Marchal, Cécile, Nordli, Douglas R, Lindstrom, Kristin, Striano, Pasquale, Lomax, Lysa Boissé, Kiss, Courtney, Bartolomei, Fabrice, Lepine, Anne Fabienne, Schoonjans, An-Sofie, Stouffs, Katrien, Jansen, Anna, Panagiotakaki, Eleni, Ricard-Mousnier, Brigitte, Thevenon, Julien, de Bellescize, Julitta, Catenoix, Hélène, Dorn, Thomas, Zenker, Martin, Müller-Schlüter, Karen, Brandt, Christian, Krey, Ilona, Polster, Tilman, Wolff, Markus, Balci, Meral, Rostasy, Kevin, Achaz, Guillaume, Zacher, Pia, Becher, Thomas, Cloppenborg, Thomas, Yuskaitis, Christopher J., Weckhuysen, Sarah, Poduri, Annapurna, Lemke, Johannes R., Møller, Rikke S., Baulac, Stéphanie
Published in Genetics in medicine (01.02.2019)

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Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies

by Abou-Khalil, Bassel, Auce, Pauls, Avbersek, Andreja, Bahlo, Melanie, Balding, David J., Bast, Thomas, Baum, Larry, Becker, Albert J., Becker, Felicitas, Berghuis, Bianca, Berkovic, Samuel F., Boysen, Katja E., Bradfield, Jonathan P., Brody, Lawrence C., Buono, Russell J., Campbell, Ellen, Cascino, Gregory D., Catarino, Claudia B., Cavalleri, Gianpiero L., Cherny, Stacey S., Chinthapalli, Krishna, Coffey, Alison J., Compston, Alastair, Coppola, Antonietta, Cossette, Patrick, Craig, John J., de Haan, Gerrit-Jan, De Jonghe, Peter, de Kovel, Carolien G. F., Delanty, Norman, Depondt, Chantal, Devinsky, Orrin, Dlugos, Dennis J., Doherty, Colin P., Elger, Christian E., Eriksson, Johan G., Ferraro, Thomas N., Feucht, Martha, Francis, Ben, Franke, Andre, French, Jacqueline A., Freytag, Saskia, Gaus, Verena, Geller, Eric B., Gieger, Christian, Glauser, Tracy, Glynn, Simon, Goldstein, David B., Gui, Hongsheng, Guo, Youling, Haas, Kevin F., Hakonarson, Hakon, Hallmann, Kerstin, Haut, Sheryl, Heinzen, Erin L., Helbig, Ingo, Hengsbach, Christian, Hjalgrim, Helle, Iacomino, Michele, Ingason, Andrés, Jamnadas-Khoda, Jennifer, Johnson, Michael R., Kälviäinen, Reetta, Kantanen, Anne-Mari, Kasperavičiūte, Dalia, Kasteleijn-Nolst Trenite, Dorothee, Kirsch, Heidi E., Knowlton, Robert C., Koeleman, Bobby P. C., Krause, Roland, Krenn, Martin, Kunz, Wolfram S., Kuzniecky, Ruben, Kwan, Patrick, Lal, Dennis, Lau, Yu-Lung, Lehesjoki, Anna-Elina, Lerche, Holger, Leu, Costin, Lieb, Wolfgang, Lindhout, Dick, Lo, Warren D., Lopes-Cendes, Iscia, Lowenstein, Daniel H., Malovini, Alberto, Marson, Anthony G., Mayer, Thomas, McCormack, Mark, Mills, James L., Mirza, Nasir, Moerzinger, Martina, Møller, Rikke S., Molloy, Anne M., Muhle, Hiltrud, Newton, Mark, Ng, Ping-Wing, Nöthen, Markus M., Nürnberg, Peter, O’Brien, Terence J., Oliver, Karen L.
Published in Nature communications (10.12.2018)

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GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture

by Stevelink, Remi, Campbell, Ciarán, Chen, Siwei, Abou-Khalil, Bassel, Adesoji, Oluyomi M., Afawi, Zaid, Amadori, Elisabetta, Anderson, Alison, Anderson, Joseph, Andrade, Danielle M., Annesi, Grazia, Auce, Pauls, Avbersek, Andreja, Bahlo, Melanie, Baker, Mark D., Balagura, Ganna, Balestrini, Simona, Barba, Carmen, Barboza, Karen, Bartolomei, Fabrice, Bast, Thomas, Baum, Larry, Baumgartner, Tobias, Baykan, Betül, Bebek, Nerses, Becker, Albert J., Becker, Felicitas, Bennett, Caitlin A., Berghuis, Bianca, Berkovic, Samuel F., Beydoun, Ahmad, Bianchini, Claudia, Bisulli, Francesca, Blatt, Ilan, Bobbili, Dheeraj R., Borggraefe, Ingo, Bosselmann, Christian, Braatz, Vera, Bradfield, Jonathan P., Brockmann, Knut, Brody, Lawrence C., Buono, Russell J., Busch, Robyn M., Caglayan, Hande, Campbell, Ellen, Canafoglia, Laura, Canavati, Christina, Cascino, Gregory D., Castellotti, Barbara, Catarino, Claudia B., Cavalleri, Gianpiero L., Cerrato, Felecia, Chassoux, Francine, Cherny, Stacey S., Cheung, Ching-Lung, Chinthapalli, Krishna, Chou, I-Jun, Chung, Seo-Kyung, Churchhouse, Claire, Clark, Peggy O., Cole, Andrew J., Compston, Alastair, Coppola, Antonietta, Cosico, Mahgenn, Cossette, Patrick, Craig, John J., Cusick, Caroline, Daly, Mark J., Davis, Lea K., de Haan, Gerrit-Jan, Delanty, Norman, Depondt, Chantal, Derambure, Philippe, Devinsky, Orrin, Di Vito, Lidia, Dlugos, Dennis J., Doccini, Viola, Doherty, Colin P., El-Naggar, Hany, Elger, Christian E., Ellis, Colin A., Eriksson, Johan G., Faucon, Annika, Feng, Yen-Chen A., Ferguson, Lisa, Ferraro, Thomas N., Ferri, Lorenzo, Feucht, Martha, Fitzgerald, Mark, Fonferko-Shadrach, Beata, Fortunato, Francesco, Franceschetti, Silvana, Franke, Andre, French, Jacqueline A., Freri, Elena, Gagliardi, Monica, Gambardella, Antonio, Geller, Eric B., Giangregorio, Tania, Gjerstad, Leif
Published in Nature genetics (01.09.2023)

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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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Shared genetic basis between genetic generalized epilepsy and background electroencephalographic oscillations

by Smith, Alexander W., Carpay, Johannes A., Devinsky, Orrin, Braun, Kees P. J., Smit, Dirk J. A., Avbersek, Andreja, Becker, Albert J., Berkovic, Samuel F., Boysen, Katja E., Campbell, Ellen, Cascino, Gregory D., Catarino, Claudia B., Chinthapalli, Krishna, Coffey, Alison J., Coppola, Antonietta, Cossette, Patrick, De Jonghe, Peter, Dlugos, Dennis J., Feucht, Martha, Freytag, Saskia, Geller, Eric B., Guo, Youling, Hakonarson, Hakon, Haut, Sheryl, Heinzen, Erin L., Hengsbach, Christian, Johnson, Michael R., Kälviäinen, Reetta, Kirsch, Heidi E., Lau, Yu‐Lung, Lehesjoki, Anna‐Elina, Lerche, Holger, Lieb, Wolfgang, Malovini, Alberto, McCormack, Mark, Molloy, Anne M., Rau, Sarah, Schachter, Steven C., Vari, Maria S., Weber, Yvonne G., Weisenberg, Judith, Wolff, Markus, Yang, Wanling, Zara, Federico, Howrigan, Daniel P., Cerrato, Felecia, Gabriel, Stacey B., Daly, Mark J., Neale, Benjamin M., Lowenstein, Daniel H., Cossette, Patrick, Cotsapas, Chris, Petrovski, Slavé, Sisodiya, Sanjay M., Freyer, Catharine, McKenna, Kevin, Bennett, Caitlin A., Burgess, Rosemary, O'Brien, Terence J., Stamberger, Hannah, Krestel, Heinz, Gallati, Sabina, Papacostas, Savvas S., Tanteles, George A., Klein, Karl Martin, Rademacher, Michael, Afawi, Zaid, Korczyn, Amos D., Kanaan, Moien, Lemke, Johannes R., Wolking, Stefan, Schulze‐Bonhage, Andreas, Schubert‐Bast, Susanne, Korinthenberg, Rudolf, Dennig, Dieter, Madeleyn, Rene, Kälviäinen, Reetta, Linnankivi, Tarja, Rees, Mark I., Schneider, Natascha, Sills, Graeme J., Shukralla, Arif, McCormack, Mark, Canafoglia, Laura, Franceschetti, Silvana, Iacomino, Michele, Stella Vari, Maria, Salpietro, Vincenzo, Labate, Angelo, Manna, Lorella, Parrini, Elena, Inoue, Yushi, Topaloglu, Pınar, Yücesan, Emrah, Poduri, Annapurna, Buono, Russell J., Sperling, Michael R., Lo, Warren, Hegde, Manu, Helbig, Katherine L.
Published in Epilepsia (Copenhagen) (01.07.2021)

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Correction: The landscape of epilepsy-related GATOR1 variants

by Baldassari, Sara, Picard, Fabienne, Verbeek, Nienke E., van Kempen, Marjan, Brilstra, Eva H., Lesca, Gaetan, Conti, Valerio, Guerrini, Renzo, Bisulli, Francesca, Licchetta, Laura, Pippucci, Tommaso, Tinuper, Paolo, Hirsch, Edouard, de Saint Martin, Anne, Chelly, Jamel, Rudolf, Gabrielle, Chipaux, Mathilde, Ferrand-Sorbets, Sarah, Dorfmüller, Georg, Sisodiya, Sanjay, Balestrini, Simona, Schoeler, Natasha, Hernandez-Hernandez, Laura, Krithika, S., Oegema, Renske, Hagebeuk, Eveline, Gunning, Boudewijn, Deckers, Charles, Berghuis, Bianca, Wegner, Ilse, Niks, Erik H., Jansen, Floor E., Braun, Kees, de Jong, Daniëlle, Rubboli, Guido, Talvik, Inga, Sander, Valentin, Uldall, Peter, Jacquemont, Marie-Line, Nava, Caroline, Leguern, Eric, Julia, Sophie, Gambardella, Antonio, d’Orsi, Giuseppe, Crichiutti, Giovanni, Faivre, Laurence, Darmency, Veronique, Benova, Barbora, Krsek, Pavel, Biraben, Arnaud, Lebre, Anne-Sophie, Jennesson, Mélanie, Sattar, Shifteh, Marchal, Cécile, NordliJr, Douglas R, Lindstrom, Kristin, Striano, Pasquale, Lomax, Lysa Boissé, Kiss, Courtney, Bartolomei, Fabrice, Lepine, Anne Fabienne, Schoonjans, An-Sofie, Stouffs, Katrien, Jansen, Anna, Panagiotakaki, Eleni, Ricard-Mousnier, Brigitte, Thevenon, Julien, de Bellescize, Julitta, Catenoix, Hélène, Dorn, Thomas, Zenker, Martin, Müller-Schlüter, Karen, Brandt, Christian, Krey, Ilona, Polster, Tilman, Wolff, Markus, Balci, Meral, Rostasy, Kevin, Achaz, Guillaume, Zacher, Pia, Becher, Thomas, Cloppenborg, Thomas, Yuskaitis, Christopher J., Weckhuysen, Sarah, Poduri, Annapurna, Lemke, Johannes R., Møller, Rikke S., Baulac, Stéphanie
Published in Genetics in medicine (01.08.2019)

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Correction to: The landscape of epilepsy-related GATOR1 variants

by Baldassari, Sara, Picard, Fabienne, Verbeek, Nienke E., van Kempen, Marjan, Brilstra, Eva H., Lesca, Gaetan, Conti, Valerio, Guerrini, Renzo, Bisulli, Francesca, Licchetta, Laura, Pippucci, Tommaso, Tinuper, Paolo, Hirsch, Edouard, Martin, Anne de Saint, Chelly, Jamel, Rudolf, Gabrielle, Chipaux, Mathilde, Ferrand-Sorbets, Sarah, Dorfmüller, Georg, Sisodiya, Sanjay, Balestrini, Simona, Schoeler, Natasha, Hernandez-Hernandez, Laura, Krithika, S., Oegema, Renske, Hagebeuk, Eveline, Gunning, Boudewijn, Deckers, Charles, Berghuis, Bianca, Wegner, Ilse, Niks, Erik, Jansen, Floor, Braun, Kees, Jong, Daniëlle de, Rubboli, Guido, Talvik, Inga, Sander, Valentin, Uldall, Peter, Jacquemont, Marie-Line, Nava, Caroline, Leguern, Eric, Julia, Sophie, Gambardella, Antonio, d’Orsi, Giuseppe, Crichiutti, Giovanni, Faivre, Laurence, Darmency, Veronique, Benova, Barbora, Krsek, Pavel, Biraben, Arnaud, Lebre, Anne-Sophie, Jennesson, Mélanie, Sattar, Shifteh, Marchal, Cécile, NordliJr, Douglas R., Lindstrom, Kristin, Striano, Pasquale, Lomax, Lysa Boissé, Kiss, Courtney, Bartolomei, Fabrice, Lepine, Anne Fabienne, Schoonjans, An-Sofie, Stouffs, Katrien, Jansen, Anna, Panagiotakaki, Eleni, Ricard-Mousnier, Brigitte, Thevenon, Julien, Bellescize, Julitta de, Catenoix, Hélène, Dorn, Thomas, Zenker, Martin, Müller-Schlüter, Karen, Brandt, Christian, Krey, Ilona, Polster, Tilman, Wolff, Markus, Balci, Meral, Rostasy, Kevin, Achaz, Guillaume, Zacher, Pia, Becher, Thomas, Cloppenborg, Thomas, Yuskaitis, Christopher J., Weckhuysen, Sarah, Poduri, Annapurna, Lemke, Johannes R., Møller, Rikke S., Baulac, Stéphanie
Published in Genetics in medicine (01.07.2019)

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