Published August 2018
| Version v1
Journal article
Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study
- Creators
- Cestèle, Sandrine
- Jonghe, Peter De
- Ikram, M Arfan
- May, Patrick
- Girard, Simon
- Harrer, Merle
- Bobbili, Dheeraj
- Schubert, Julian
- Wolking, Stefan
- Becker, Felicitas
- Lachance-Touchette, Pamela
- Meloche, Caroline
- Gravel, Micheline
- Niturad, Cristina
- 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
- Cestele, Sandrine
- Terragni, Benedetta
- Coombs, Ian
- Reid, Christopher
- Striano, Pasquale
- Caglayan, Hande
- Siren, Auli
- Everett, Kate
- Møller, Rikke
- Hjalgrim, Helle
- Muhle, Hiltrud
- Helbig, Ingo
- Kunz, Wolfram
- Weber, Yvonne
- Weckhuysen, Sarah
- de Jonghe, Peter
- Sisodiya, Sanjay
- Nabbout, Rima
- Franceschetti, Silvana
- Coppola, Antonietta
- Vari, Maria
- Kasteleijn-Nolst Trenité, Dorothée
- Baykan, Betul
- Ozbek, Ugur
- Bebek, Nerses
- Klein, Karl
- Rosenow, Felix
- Nguyen, Dang
- Dubeau, François
- Carmant, Lionel
- Lortie, Anne
- Desbiens, Richard
- Clément, Jean-François
- Cieuta-Walti, Cécile
- Sills, Graeme
- Auce, Pauls
- Francis, Ben
- Johnson, Michael
- Marson, Anthony
- Berghuis, Bianca
- Sander, Josemir
- Avbersek, Andreja
- Mccormack, Mark
- Cavalleri, Gianpiero
- Delanty, Norman
- Depondt, Chantal
- Krenn, Martin
- Zimprich, Fritz
- Peter, Sarah
- Nikanorova, Marina
- Kraaij, Robert
- van Rooij, Jeroen
- Balling, Rudi
- Arfan Ikram, M
- Uitterlinden, Andre
- Avanzini, Giuliano
- Schorge, Stephanie
- Petrou, Steven
- Mantegazza, Massimo
- Sander, Thomas
- Leguern, Eric
- Serratosa, Jose
- Koeleman, Bobby
- Palotie, Aarno
- Lehesjoki, Anna-Elina
- Nothnagel, Michael
- Nurnberg, Peter
- Maljevic, Snezana
- Zara, Federico
- Cossette, Patrick
- Krause, Roland
- Lerche, Holger
- Ferlazzo, Edoardo
- Di Bonaventura, Carlo
- La Neve, Angela
- Tinuper, Paolo
- Bisulli, Francesca
- Vignoli, Aglaia
- Capovilla, Giuseppe
- Crichiutti, Giovanni
- Gambardella, Antonio
- Belcastro, Vincenzo
- Bianchi, Amedeo
- Yalçin, Destina
- Dizdarer, Gulsen
- Arslan, Kezban
- Yapici, Zuhal
- Kuşcu, Demet
- Leu, Costin
- Heggeli, Kristin
- Willis, Joseph
- Langley, Sarah
- Jorgensen, Andrea
- Srivastava, Prashant
- Rau, Sarah
- Hengsbach, Christian
- Sonsma, Anja C.M.
- Others:
- Université Côte d'Azur, CNRS, UMR 7275, Institut de Pharmacologie Moléculaire et Cellulaire, Sophia Antipolis
- Erasmus University Medical Center [Rotterdam] (Erasmus MC)
- Laboratory of Molecular Genetics of Stem Cells [University of Montreal] ; University of Montreal-Institut de Recherche en Immunologie et en Cancérologie [UdeM-Montréal] (IRIC) ; Université de Montréal (UdeM)-Université de Montréal (UdeM)
- University of Tübingen
- University Medical Center [Utrecht]
- Università degli studi di Genova = University of Genoa (UniGe)
- Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière (CRICM) ; Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)
- A.Meyer Children's Hospital
- Max Planck Institute for Plant Breeding Research (MPIPZ)
- University of Cologne
- The Genome Analysis Centre (TGAC)
- Cologne Center for Genomics ; University of Cologne
- Institut de pharmacologie moléculaire et cellulaire (IPMC) ; Université Nice Sophia Antipolis (1965 - 2019) (UNS) ; COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Centre National de la Recherche Scientifique (CNRS)
- Ingénierie des protéines (IP) ; Université de la Méditerranée - Aix-Marseille 2-Centre National de la Recherche Scientifique (CNRS)
- Department of Neurophysiopathology ; Besta Neurological Institute
- University of Southern Denmark (SDU)
- Medical Genetics Laboratory ; Medical Genetics Laboratory
- Children's Hospital of Philadelphia (CHOP )
- Universitätsklinikum Bonn (UKB)
- Antwerp University Hospital [Edegem] (UZA)
- University of Antwerp (UA)
- Department of Clinical and Experimental Epilepsy ; University College of London [London] (UCL)
- Département de Neuropédiatrie, ; CHU Necker - Enfants Malades [AP-HP] ; Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)
- Instituco Neurologico C. Besta ; Instituto Neurologico C. Besta
- Medical Genetics and Pediatric Cardiology ; IRCCS Ospedale Pediatrico Bambino Gesù [Roma]
- Département de mathématiques [Sherbrooke] (UdeS) ; Faculté des sciences [Sherbrooke] (UdeS) ; Université de Sherbrooke (UdeS)-Université de Sherbrooke (UdeS)
- University of Liverpool
- Institute of Neurology [London] ; University College of London [London] (UCL)
- Royal College of Surgeons in Ireland (RCSI)
- Neurology Division, Beaumont Hospital, Dublin 9, Ireland ; Beaumont Hospital
- Hôpital Erasme [Bruxelles] (ULB) ; Faculté de Médecine [Bruxelles] (ULB) ; Université libre de Bruxelles (ULB)-Université libre de Bruxelles (ULB)
- Medizinische Universität Wien = Medical University of Vienna
- Department of Epilepsy Clinic and Experimental Neurophysiology ; Fondazione IRCCS Istituto Neurologico "Carlo Besta"
- Broad Institute of MIT and Harvard (BROAD INSTITUTE) ; Harvard Medical School [Boston] (HMS)-Massachusetts Institute of Technology (MIT)-Massachusetts General Hospital [Boston]
- Department of Medical and Clinical Genetics [Helsinki] ; Haartman Institute [Helsinki] ; Faculty of Medecine [Helsinki] ; Helsingin yliopisto = Helsingfors universitet = University of Helsinki-Helsingin yliopisto = Helsingfors universitet = University of Helsinki-Faculty of Medecine [Helsinki] ; Helsingin yliopisto = Helsingfors universitet = University of Helsinki-Helsingin yliopisto = Helsingfors universitet = University of Helsinki
- Institute of Medical Informatics and Statistics ; Institute of Medical Informatics and Statistics
- Pediatric Neurology and Neuromuscular Diseases Unit ; Università degli studi di Genova = University of Genoa (UniGe)
- Centre Hospitalier de l'Université de Montréal (CHUM) ; Université de Montréal (UdeM)
- Hertie Institute for Clinical Brain Research [Tubingen] ; University of Tübingen
- Regional Epilepsy Center, Reggio Calabria ; Regional Epilepsy Center, Reggio Calabria
- Agronomes et Vétérinaires Sans Frontières (AVSF) ; AVSF
- NIHR Biomedical Research Centre [London] ; Guy's and St Thomas' NHS Foundation Trust-King's College London
Description
International audience
Additional details
- URL
- https://hal.archives-ouvertes.fr/hal-02352036
- URN
- urn:oai:HAL:hal-02352036v1
- Origin repository
- UNICA