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

Koko, Mahmoud; Motelow, Joshua E; 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; Baulac, Stéphanie; Bautista, Jocelyn F; Becker, Felicitas; Bellows, Susannah T; Berghuis, Bianca; Berkovic, Samuel F; Bluvstein, Judith; Boro, Alex; Bridgers, Joshua; Burgess, Rosemary; Caglayan, Hande; Cascino, Gregory D; Cavalleri, Gianpiero L; Chung, Seo Kyung; Cieuta-Walti, Cécile; Cloutier, Véronique; Consalvo, Damian; Cossette, Patrick; Crumrine, Patricia; Delanty, Norman; Depondt, Chantal; Desbiens, Richard; Devinsky, Orrin; Dlugos, Dennis; Epstein, Michael P; Everett, Kate; Fiol, Miguel; Fountain, Nathan B; Francis, Ben; French, Jacqueline; Freyer, Catharine; Friedman, Daniel; Gambardella, Antonio; Geller, Eric B; Girard, Simon; Glauser, Tracy; Glynn, Simon; Goldstein, David B; Gravel, Micheline; Haas, Kevin; Haut, Sheryl R; Heinzen, Erin L; Helbig, Ingo; Hildebrand, Michael S; Johnson, Michael R; Jorgensen, Andrea; Joshi, Sucheta; Kanner, Andres; Kirsch, Heidi E; Klein, Karl M; Knowlton, Robert C; Koeleman, Bobby PC; Kossoff, Eric H; Krause, Roland; Krenn, Martin; Kunz, Wolfram S; Kuzniecky, Ruben; Langley, Sarah R; LeGuern, Eric; Lehesjoki, Anna Elina; Lerche, Holger; Leu, Costin; Lortie, Anne; Lowenstein, Daniel H; Marson, Anthony G; Mebane, Caroline; Mefford, Heather C; Meloche, Caroline; Moreau, Claudia; Motika, Paul V; Muhle, Hiltrud; Møller, Rikke S; Nabbout, Rima; Nguyen, Dang K; Nikanorova, Marina; Novotny, Edward J; Nürnberg, Peter; Ottman, Ruth; O’Brien, Terence J; Paolicchi, Juliann M; Parent, Jack M; Park, Kristen; Peter, Sarah; Petrou, Steven; Petrovski, Slavé; Pickrell, William O; Poduri, Annapurna; Radtke, Rodney A; Rees, Mark I; Regan, Brigid M; Ren, Zhong; Sadleir, Lynette G; Sander, Josemir W; Sander, Thomas; Scheffer, Ingrid E; Schubert, Julian; Shellhaas, Renée A; Sherr, Elliott H; Shih, Jerry J; Shinnar, Shlomo; Sills, Graeme J; Singh, Rani K; Siren, Auli; Sirven, Joseph; Sisodiya, Sanjay M; Smith, Michael C; Sonsma, Anja CM; Striano, Pasquale; Sullivan, Joseph; Thio, Liu Lin; Thomas, Rhys H; Venkat, Anu; Vining, Eileen PG; Von Allmen, Gretchen K; Wang, Quanli; Weber, Yvonne G; Weckhuysen, Sarah; Weisenberg, Judith L; Widdess-Walsh, Peter; Winawer, Melodie R; Wolking, Stefan; Zara, Federico; Zimprich, Fritz

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

journal contribution

posted on 2024-10-20, 00:07 authored by Mahmoud Koko, Joshua E Motelow, Kate E Stanley, Dheeraj R Bobbili, Ryan S Dhindsa, Patrick May, Brian K Alldredge, Andrew S Allen, Janine Altmüller, Dina Amrom, Eva Andermann, Pauls Auce, Andreja Avbersek, Stéphanie Baulac, Jocelyn F Bautista, Felicitas Becker, Susannah T Bellows, Bianca Berghuis, Samuel F Berkovic, Judith Bluvstein, Alex Boro, Joshua Bridgers, Rosemary Burgess, Hande Caglayan, Gregory D Cascino, Gianpiero L Cavalleri, Seo Kyung Chung, Cécile Cieuta-Walti, Véronique Cloutier, Damian Consalvo, Patrick Cossette, Patricia Crumrine, Norman Delanty, Chantal Depondt, Richard Desbiens, Orrin Devinsky, Dennis Dlugos, Michael P Epstein, Kate Everett, Miguel Fiol, Nathan B Fountain, Ben Francis, Jacqueline French, Catharine Freyer, Daniel Friedman, Antonio Gambardella, Eric B Geller, Simon Girard, Tracy Glauser, Simon Glynn, David B Goldstein, Micheline Gravel, Kevin Haas, Sheryl R Haut, Erin L Heinzen, Ingo Helbig, Michael S Hildebrand, Michael R Johnson, Andrea Jorgensen, Sucheta Joshi, Andres Kanner, Heidi E Kirsch, Karl M Klein, Robert C Knowlton, Bobby PC Koeleman, Eric H Kossoff, Roland Krause, Martin Krenn, Wolfram S Kunz, Ruben Kuzniecky, Sarah R Langley, Eric LeGuern, Anna Elina Lehesjoki, Holger Lerche, Costin Leu, Anne Lortie, Daniel H Lowenstein, Anthony G Marson, Caroline Mebane, Heather C Mefford, Caroline Meloche, Claudia Moreau, Paul V Motika, Hiltrud Muhle, Rikke S Møller, Rima Nabbout, Dang K Nguyen, Marina Nikanorova, Edward J Novotny, Peter Nürnberg, Ruth Ottman, Terence J O’Brien, Juliann M Paolicchi, Jack M Parent, Kristen Park, Sarah Peter, Steven Petrou, Slavé Petrovski, William O Pickrell, Annapurna Poduri, Rodney A Radtke, Mark I Rees, Brigid M Regan, Zhong Ren, Lynette G Sadleir, Josemir W Sander, Thomas Sander, Ingrid E Scheffer, Julian Schubert, Renée A Shellhaas, Elliott H Sherr, Jerry J Shih, Shlomo Shinnar, Graeme J Sills, Rani K Singh, Auli Siren, Joseph Sirven, Sanjay M Sisodiya, Michael C Smith, Anja CM Sonsma, Pasquale Striano, Joseph Sullivan, Liu Lin Thio, Rhys H Thomas, Anu Venkat, Eileen PG Vining, Gretchen K Von Allmen, Quanli Wang, Yvonne G Weber, Sarah Weckhuysen, Judith L Weisenberg, Peter Widdess-Walsh, Melodie R Winawer, Stefan Wolking, Federico Zara, Fritz Zimprich

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

History

Journal

Epilepsia

Volume

63

Pagination

723-735

Location

London, Eng.

Open access

Yes

Link to full text

http://doi.org/10.1111/epi.17166

ISSN

0013-9580

eISSN

1528-1167

Language

eng

Publication classification

C1 Refereed article in a scholarly journal

Publisher

Wiley

Usage metrics

Keywords

familial epilepsy GABAA receptors GABRG2 GGE sporadic epilepsy 3202 Clinical sciences 3209 Neurosciences

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

History

Journal

Volume

Pagination

Location

Open access

Link to full text

ISSN

eISSN

Language

Publication classification

Publisher

Usage metrics

Categories

Keywords

Licence

Exports