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Rare coding variants in genes encoding GABA(A) receptors in genetic generalised epilepsies: an exome-based case-control study

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作者: May, Patrick [1] ; Girard, Simon [2] ; Harrer, Merle [3] ; Bobbili, Dheeraj R. [4] ; Schubert, Julian [5] ; Wolking, Stefan [6] ; Becker, Felicitas [7] ; Lachance-Touchette, Pamela [8] ; Meloche, Caroline [9] ; Gravel, Micheline [10] ; Niturad, Cristina E. [11] ; Knaus, Julia [12] ; De Kovel, Carolien [13] ; Toliat, Mohamad [14] ; Polvi, Anne [15] ; Iacomino, Michele [16] ; Guerrero-Lopez, Rosa [17] ; Baulac, Stephanie [18] ; Marini, Carla [19] ; Thiele, Holger [20] ; Altmueller, Janine [21] ; Jabbari, Kamel [22] ; Ruppert, Ann-Kathrin [23] ; Jurkowski, Wiktor [24] ; Lal, Dennis [25] ; Rusconi, Raffaella [26] ; Cestele, Sandrine [27] ; Terragni, Benedetta [28] ; Coombs, Ian D. [29] ; Reid, Christopher A. [30] ; Striano, Pasquale [31] ; Caglayan, Hande [32] ; Siren, Auli [33] ; Everett, Kate [34] ; Moller, Rikke S. [35] ; Hjalgrim, Helle [36] ; Muhle, Hiltrud [37] ; Helbig, Ingo [38] ; Kunz, Wolfram S. [39] ; Weber, Yvonne G. [40] ; Weckhuysen, Sarah [41] ; De Jonghe, Peter [42] ; Sisodiya, Sanjay M. [43] ; Nabbout, Rima [44] ; Franceschetti, Silvana ; Coppola, Antonietta ; Vari, Maria S. ; Trenite, Dorothee Kasteleijn-Nolst ; Baykan, Betul ; Ozbek, Ugur ; Bebek, Nerses ; Klein, Karl M. ; Rosenow, Felix ; Nguyen, Dang K. ; Dubeau, Francois ; Carmant, Lionel ; Lortie, Anne ; Desbiens, Richard ; Clement, Jean-Francois ; Cieuta-Walti, Cecile ; 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, Andre 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 ; Nuernberg, Peter ; Maljevic, Snezana ; Zara, Federico ; Cossette, Patrick ; Krause, Roland ; Lerche, Holger
作者单位: Univ Liverpool, Dept Mol & Clin Pharmacol, Liverpool, Merseyside, England [1] Broad Inst MIT & Harvard, Stanley Ctr Psychiat Res, Cambridge, MA USA [2] Med Univ Vienna, Dept Neurol, Vienna, Austria [3] Univ Tubingen, Dept Neurol & Epileptol, Hertie Inst Clin Brain Res, D-72076 Tubingen, Germany [4] Antwerp Univ Hosp, Div Neurol, Antwerp, Belgium [5] Univ Genoa, Inst G Gaslini, DINOGMI Dept Neurosci Rehabil Ophthalmol Genet Ma, Pediat Neurol & [6] UMC Utrecht, Dept Genet, Utrecht, Netherlands [7] Univ Bonn, Inst Expt Epileptol & Cognit Res, Dept Epileptol, Bonn, Germany [8] UCL, Dept Neurosci Physiol & Pharmacol, Inst Neurol, London, England [9] Istanbul Univ, Istanbul Fac Med, Dept Neurol, Istanbul, Turkey [10] UCL, Dept Clin & Expt Epilepsy, Inst Neurol, London, England [11] Univ Sherbrooke, Ctr Hosp Univ, Sherbrooke, PQ, Canada [12] Univ Quebec Chicoutimi, Dept Sci Fondamentales, Saguenay, PQ, Canada [13] Univ Kiel, Univ Med Ctr Schleswig Holstein, Dept Neuropediat, Kiel, Germany [14] Montreal Neurol Hosp, Montreal, PQ, Canada [15] CHU Ste Justine, Montreal, PQ, Canada [16] Univ Montreal, Ctr Hosp Univ, Ctr Rech, Montreal, PQ, Canada [17] Univ Luxembourg, Luxembourg Ctr Syst Biomed, Esch Sur Alzette, Luxembourg [18] Ctr Hosp Univ Montreal, Montreal, PQ, Canada [19] Univ Cote Azur, CNRS UMR7275, Inst Mol & Cellular Pharmacol, Lab Excellence Ion Channel Sci & [20] Danish Epilepsy Ctr, Dianalund, Denmark [21] SEIN, Heemstede, Netherlands [22] Univ Cologne, Cologne Ctr Genom, Cologne, Germany [23] Goethe Univ, Univ Hosp, Epilepsy Ctr Frankfurt Rhine Main, Dept Neurol,Ctr Neurol & Neurosurg [24] Fdn Jimenez Diaz, Inst Invest Sanitaria, Lab Neurol, Madrid, Spain [25] Acibadem Univ, Inst Hlth Sci, Sch Med, Dept Med Genet, Istanbul, Turkey [26] Folkhalsan Inst Genet, Helsinki, Finland [27] Inst G Gaslini, Lab Neurogenet & Neurosci, Genoa, Italy [28] INSERM, U1129, Paris, France [29] Sorbonne Univ, Hop Pitie Salpetriere, AP HP,CNRS UMR 7225,Dept Genet, Inst Cerveau & Moelle [30] St Georges Univ London, Cell Sci & Genet Res Ctr, London, England [31] Univ Naples Federico II, Dept Neurosci Reprod & Odontostomatol Sci, Naples, Italy [32] Bogazici Univ, Dept Mol Biol & Genet, Istanbul, Turkey [33] Erasmus MC, Dept Epidemiol, Rotterdam, Netherlands [34] Univ Laval, Ctr Hosp Univ, Quebec City, PQ, Canada [35] Besta Neurol Inst, Dept Neurophysiol, Milan, Italy [36] Imperial Coll, Fac Med, Div Brain Sci, London, England [37] Clin Neuro Rive Sud, Longueuil, PQ, Canada [38] Erasmus MC, Dept Internal Med, Rotterdam, Netherlands [39] Meyer Childrens Hosp, Pediat Neurol Unit, Florence, Italy [40] Univ Liverpool, Dept Biostat, Liverpool, Merseyside, England [41] Royal Coll Surgeons Ireland, Mol & Cellular Therapeut, Dublin, Ireland [42] Florey Inst Neurosci & Mental Hlth, Ion Channels & Dis Grp, Epilepsy Div, Parkville, Vic, Australia [43] Univ Libre Bruxelles, Hop Erasme, Lab Expt Neurol, Brussels, Belgium [44]
发布时间 2020-07-29
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