Rare coding variants in genes encoding GABA(A) receptors in genetic generalised epilepsies: an exome-based case-control study
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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Lancet Neurology
Lancet Neurology
699-708页
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