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

Sandrine Cestèle 1 Peter De Jonghe M Arfan Ikram 2 Patrick May Simon Girard 3 Merle Harrer Dheeraj Bobbili Julian Schubert Stefan Wolking Felicitas Becker 4 Pamela Lachance-Touchette Caroline Meloche Micheline Gravel Cristina Niturad Julia Knaus Carolien de Kovel 5 Mohamad Toliat Anne Polvi Michele Iacomino 6 Rosa Guerrero-López Stéphanie Baulac 7 Carla Marini 8 Holger Thiele Janine Altmüller 9 Kamel Jabbari 10 Ann-Kathrin Ruppert 11 Wiktor Jurkowski 12 Dennis Lal 13 Raffaella Rusconi 14 Sandrine Cestele 15 Benedetta Terragni 16 Ian Coombs Christopher Reid Pasquale Striano 6 Hande Caglayan Auli Siren Kate Everett Rikke Møller 17 Helle Hjalgrim 18 Hiltrud Muhle Ingo Helbig 19 Wolfram Kunz 20 Yvonne Weber Sarah Weckhuysen 21 Peter de Jonghe 22 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 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 Andre Uitterlinden 2 Giuliano Avanzini 34 Stephanie Schorge Steven Petrou Massimo Mantegazza 16 Thomas Sander Eric Leguern 7 Jose Serratosa Bobby Koeleman 5 Aarno Palotie 35 Anna-Elina Lehesjoki 36 Michael Nothnagel 37 Peter Nurnberg 9 Snezana Maljevic Federico Zara 38 Patrick Cossette 39 Roland Krause Holger Lerche 40 Edoardo Ferlazzo Carlo Di Bonaventura Angela La Neve Paolo Tinuper Francesca Bisulli Aglaia Vignoli Giuseppe Capovilla Giovanni Crichiutti Antonio Gambardella 41 Vincenzo Belcastro 42 Amedeo Bianchi Destina Yalçın Gulsen Dizdarer Kezban Arslan Zuhal Yapıcı Demet Kuşcu Costin Leu 43 Kristin Heggeli Joseph Willis Sarah Langley Andrea Jorgensen Prashant Srivastava Sarah Rau Christian Hengsbach Anja C.M. Sonsma
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https://hal.archives-ouvertes.fr/hal-02352036
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Submitted on : Wednesday, November 6, 2019 - 4:28:09 PM
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Sandrine Cestèle, Peter De Jonghe, M Arfan Ikram, Patrick May, Simon Girard, 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⟩

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