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

Patrick May (1) , Simon Girard (2) , Merle Harrer , Dheeraj Bobbili , Julian Schubert , Stefan Wolking , Felicitas Becker (3) , Pamela Lachance-Touchette , Caroline Meloche , Micheline Gravel , Cristina Niturad , Julia Knaus , Carolien de Kovel (4) , Mohamad Toliat , Anne Polvi , Michele Iacomino (5) , Rosa Guerrero-López , Stéphanie Baulac (6) , Carla Marini (7) , Holger Thiele (8) , Janine Altmüller (9) , Kamel Jabbari (10) , Ann-Kathrin Ruppert (11) , Wiktor Jurkowski (12) , Dennis Lal (13) , Raffaella Rusconi (14) , Sandrine Cestèle (15) , Benedetta Terragni (16) , Ian Coombs , Christopher Reid , Pasquale Striano (5) , Hande Caglayan , Auli Siren , Kate Everett , Rikke Møller (17) , Helle Hjalgrim (18) , Hiltrud Muhle (19) , Ingo Helbig (20) , Wolfram Kunz (21) , Yvonne Weber , Sarah Weckhuysen (22) , Peter De Jonghe , Sanjay Sisodiya (23) , Rima Nabbout (24) , Silvana Franceschetti (25) , Antonietta Coppola (26) , Maria Vari , Dorothée Kasteleijn-Nolst Trenité , Betul Baykan , Ugur Ozbek , Nerses Bebek , Karl Klein , Felix Rosenow , Dang Nguyen , François Dubeau (27) , Lionel Carmant , Anne Lortie , Richard Desbiens , Jean-François Clément , Cécile Cieuta-Walti , Graeme Sills , Pauls Auce , Ben Francis , Michael Johnson , Anthony Marson (28) , Bianca Berghuis , Josemir Sander , Andreja Avbersek (29) , Mark Mccormack (30) , Gianpiero L Cavalleri (30) , Norman Delanty (31) , Chantal Depondt (32) , Martin Krenn , Fritz Zimprich (33) , Sarah Peter , Marina Nikanorova , Robert Kraaij , Jeroen van Rooij , Rudi Balling , M Arfan Ikram (34) , André Uitterlinden (34) , Giuliano Avanzini (35) , Stephanie Schorge , Steven Petrou , Massimo Mantegazza (16) , Thomas Sander , Eric Leguern (6) , Jose Serratosa , Bobby Koeleman (4) , Aarno Palotie (36) , Anna-Elina Lehesjoki (37) , Michael Nothnagel (38) , Peter Nürnberg (9) , Snezana Maljevic , Federico Zara (39) , Patrick Cossette (40) , Roland Krause , Holger Lerche (41) , Patrick May , Simon Girard (2) , Merle Harrer , Dheeraj Bobbili , Julian Schubert , Stefan Wolking , Felicitas Becker (3) , Pamela Lachance-Touchette , Caroline Meloche , Micheline Gravel , Cristina Niturad , Julia Knaus , Carolien de Kovel (4) , Mohamad Toliat , Anne Polvi , Michele Iacomino (5) , Rosa Guerrero-López , Stéphanie Baulac (6) , Carla Marini (7) , Holger Thiele , Janine Altmüller (9) , Kamel Jabbari (10) , Ann-Kathrin Ruppert (11) , Wiktor Jurkowski (12) , Dennis Lal (13) , Raffaella Rusconi (14) , Sandrine Cestèle (15) , Benedetta Terragni (16) , Ian Coombs , Christopher Reid , Pasquale Striano (5) , Hande Caglayan , Auli Siren , Kate Everett , Rikke Møller (17) , Helle Hjalgrim (18) , Hiltrud Muhle , Ingo Helbig (20) , Wolfram Kunz (21) , Yvonne Weber , Sarah Weckhuysen (22) , Peter de Jonghe (42) , Sanjay Sisodiya (23) , Rima Nabbout (24) , Silvana Franceschetti (25) , Antonietta Coppola (26) , Maria Vari , Dorothée Kasteleijn-Nolst Trenité , Betul Baykan , Ugur Ozbek , Nerses Bebek , Karl Klein , Felix Rosenow , Dang Nguyen , François Dubeau (27) , Lionel Carmant , Anne Lortie , Richard Desbiens , Jean-François Clément , Cécile Cieuta-Walti , Graeme Sills , Pauls Auce , Ben Francis , Michael Johnson , Anthony Marson (28) , Bianca Berghuis , Josemir Sander , Andreja Avbersek (29) , Mark Mccormack (30) , Gianpiero L Cavalleri (30) , Norman Delanty (31) , Chantal Depondt (32) , Martin Krenn , Fritz Zimprich (33) , Sarah Peter , Marina Nikanorova , Robert Kraaij , Jeroen van Rooij , Rudi Balling , M Arfan Ikram , André Uitterlinden (34) , Giuliano Avanzini (35) , Stephanie Schorge , Steven Petrou , Massimo Mantegazza (16) , Thomas Sander , Eric Leguern (6) , Jose Serratosa , Bobby Koeleman (4) , Aarno Palotie (36) , Anna-Elina Lehesjoki (37) , Michael Nothnagel (38) , Peter Nürnberg (9) , Snezana Maljevic , Federico Zara (39) , Patrick Cossette (40) , Roland Krause , Holger Lerche (41) , Edoardo Ferlazzo , Carlo Di Bonaventura , Angela La Neve , Paolo Tinuper , Francesca Bisulli , Aglaia Vignoli , Giuseppe Capovilla , Giovanni Crichiutti , Antonio Gambardella (43) , Vincenzo Belcastro (44) , Amedeo Bianchi , Destina Yalçın , Gulsen Dizdarer , Kezban Arslan , Zuhal Yapıcı , Demet Kuşcu , Costin Leu (45) , Kristin Heggeli , Joseph Willis , Sarah Langley , Andrea Jorgensen , Prashant Srivastava , Sarah Rau , Christian Hengsbach , Anja C.M. Sonsma

1 LCSB - Luxembourg Centre For Systems Biomedicine
2 Laboratory of Molecular Genetics of Stem Cells [University of Montreal]
3 University of Tübingen
4 University Medical Center [Utrecht]
5 UniGe - Università degli studi di Genova = University of Genoa
6 CRICM - Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière
7 A.Meyer Children's Hospital
8 Heart Center Leipzig
9 MPIPZ - Max Planck Institute for Plant Breeding Research
10 UMR 8030 - Génomique métabolique
11 University of Cologne
12 TGAC - The Genome Analysis Centre
13 Cologne Center for Genomics
14 IPMC - Institut de pharmacologie moléculaire et cellulaire
15 IPMC - Institut de pharmacologie moléculaire et cellulaire
16 Department of Neurophysiopathology
17 SDU - University of Southern Denmark
18 Medical Genetics Laboratory
19 UKSH - University Medical Center of Schleswig–Holstein = Universitätsklinikum Schleswig-Holstein
20 CHOP - Children’s Hospital of Philadelphia
21 UKB - Universitätsklinikum Bonn
22 UZA - Antwerp University Hospital [Edegem]
23 Department of Clinical and Experimental Epilepsy
24 Département de Neuropédiatrie,
25 Instituco Neurologico C. Besta
26 Medical Genetics and Pediatric Cardiology
27 UdeS - Département de mathématiques [Sherbrooke]
28 University of Liverpool
29 Institute of Neurology [London]
30 RCSI - Royal College of Surgeons in Ireland
31 Neurology Division, Beaumont Hospital, Dublin 9, Ireland
32 ULB - Hôpital Erasme [Bruxelles]
33 Medizinische Universität Wien = Medical University of Vienna
34 Erasmus MC - Erasmus University Medical Center [Rotterdam]
35 Department of Epilepsy Clinic and Experimental Neurophysiology
36 BROAD INSTITUTE - Broad Institute of MIT and Harvard
37 Department of Medical and Clinical Genetics [Helsinki]
38 Institute of Medical Informatics and Statistics
39 Pediatric Neurology and Neuromuscular Diseases Unit
40 CHUM - Centre Hospitalier de l'Université de Montréal
41 Hertie Institute for Clinical Brain Research [Tubingen]
42 UA - University of Antwerp
43 Regional Epilepsy Center, Reggio Calabria
44 AVSF - Agronomes et Vétérinaires Sans Frontières
45 NIHR Biomedical Research Centre [London]

Domaines: Sciences du Vivant [q-bio]; Biologie cellulaire

Patrick May, Simon Girard, Merle Harrer, Dheeraj Bobbili, Julian Schubert, et al.. Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study. The Lancet Neurology, 2018, 17 (8), pp.699-708. ⟨10.1016/S1474-4422(18)30215-1⟩. ⟨hal-02352036⟩