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The landscape of epilepsy-related GATOR1 variants

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第一作者: Baldassari, Sara
作者: Baldassari, Sara [1] ; Picard, Fabienne [2] ; Verbeek, Nienke E. [3] ; van Kempen, Marjan [4] ; Brilstra, Eva H. [5] ; Lesca, Gaetan [6] ; Conti, Valerio [7] ; Guerrini, Renzo [8] ; Bisulli, Francesca [9] ; Licchetta, Laura [10] ; Pippucci, Tommaso [11] ; Tinuper, Paolo [12] ; Hirsch, Edouard [13] ; de Saint Martin, Anne [14] ; Chelly, Jamel [15] ; Rudolf, Gabrielle [16] ; Chipaux, Mathilde [17] ; Ferrand-Sorbets, Sarah [18] ; Dorfmueller, Georg [19] ; Sisodiya, Sanjay [20] ; Balestrini, Simona [21] ; Schoeler, Natasha [22] ; Hernandez-Hernandez, Laura [23] ; Krithika, S. [24] ; Oegema, Renske [25] ; Hagebeuk, Eveline [26] ; Gunning, Boudewijn [27] ; Deckers, Charles [28] ; Berghuis, Bianca [29] ; Wegner, Ilse [30] ; Niks, Erik [31] ; Jansen, Floor E. [32] ; Braun, Kees [33] ; de Jong, Danielle [34] ; Rubboli, Guido [35] ; Talvik, Inga [36] ; Sander, Valentin [37] ; Uldall, Peter [38] ; Jacquemont, Marie-Line [39] ; Nava, Caroline [40] ; Leguern, Eric [41] ; Julia, Sophie [42] ; Gambardella, Antonio [43] ; d'Orsi, Giuseppe [44] ; Crichiutti, Giovanni [45] ; Faivre, Laurence [46] ; Darmency, Veronique [47] ; Benova, Barbora [48] ; Krsek, Pavel [49] ; Biraben, Arnaud [50] ; Lebre, Anne-Sophie [51] ; Jennesson, Melanie [52] ; Sattar, Shifteh [53] ; Marchal, Cecile [54] ; Nordli, Douglas R., Jr. ; Lindstrom, Kristin ; Striano, Pasquale ; Lomax, Lysa Boisse ; Kiss, Courtney ; Bartolomei, Fabrice ; Lepine, Anne Fabienne ; Schoonjans, An-Sofie ; Stouffs, Katrien ; Jansen, Anna ; Panagiotakaki, Eleni ; Ricard-Mousnier, Brigitte ; Thevenon, Julien ; de Bellescize, Julitta ; Catenoix, Helene ; Dorn, Thomas ; Zenker, Martin ; Mueller-Schluter, Karen ; Brandt, Christian ; Krey, Ilona ; Polster, Tilman ; Wolff, Markus ; Balci, Meral ; Rostasy, Kevin ; Achaz, Guillaume ; Zacher, Pia ; Becher, Thomas ; Cloppenborg, Thomas ; Yuskaitis, Christopher J. ; Weckhuysen, Sarah ; Poduri, Annapurna ; Lemke, Johannes R. ; Moller, Rikke S. ; Baulac, Stephanie
作者单位: CHU Univ Bourgogne Franche Comte, Inserm UMR 1231 GAD Team, Genet Dev Anomalies, Dijon, France [1] Univ Hosp, Inst Human Genet, Magdeburg, Germany [2] Magna Graecia Univ Catanzaro, Dept Med & Surg Sci, Inst Neurol, Catanzaro, Italy [3] Hop Purpan CHU Toulouse, Pavillon Lefebvre, Serv Genet Med, Toulouse, France [4] UCL Inst Neurol, Dept Clin & Expt Epilepsy, London WC1N 3BG, England [5] Ctr Hosp Univ Rennes, F-35000 Rennes, France [6] Polyclin St Orsola Malpighi Univ Hosp, Med Genet Unit, Bologna, Italy [7] Univ Foggia, Riuniti Hosp, Clin Nervous Syst Dis, Epilepsy Ctr, Foggia, Italy [8] Boston Childrens Hosp, FM Kirby Neurobiol Ctr, Dept Neurol, Boston, MA USA [9] Tallinn Childrens Hosp, Dept Neurol & Rehabil, Tallinn, Estonia [10] Univ Childrens Hosp, Dept Pediat Neurol & Dev Med, Tubingen, Germany [11] Bethel Epilepsy Ctr, Bielefeld, Germany [12] Fdn Adolphe De Rothschild, Dept Pediat Neurosurg, F-75019 Paris, France [13] Univ Calif San Diego, Rady Childrens Hosp, Dept Pediat Neurol, San Diego, CA USA [14] Univ Leipzig Hosp & Clin, Inst Human Genet, Leipzig, Germany [15] Phoenix Childrens Hosp, Div Genet & Metab, Phoenix, AZ USA [16] Timone Hosp, APHM, Pediat Neurol Dept, Marseille, France [17] Stichting Epilepsie Instellingen Nederland, Zwolle Heemstede, Netherlands [18] UMR 7205 CNRS MNHN UPMC EPHE, ISYEB, Inst Systemat Evolut Biodiversite, Paris, France [19] Kingston Hlth Sci Ctr, Kingston, ON K7L 2V7, Canada [20] CHU La Reun, Unit Med Genet, F-97448 St Pierre, France [21] Univ Hosp, Brandenburg Med Sch, Epilepsy Ctr Children, Neuruppin, Germany [22] A Meyer Childrens Hosp, Pediatr Neurol Neurogenet & Neurobiol Unit & Labs, Florence, Italy [23] Univ Southern Calif, Keck Sch Med, Childrens Hosp Los Angeles, Los Angeles, CA 90033 USA [24] VUB, UZ Brussel, Neurogenet Res Grp, Laarbeeklaan 101, B-1090 Brussels, Belgium [25] Acad Ctr Epileptol Kempenhaeghe, Dept Neurol, Heeze, Netherlands [26] Univ Bologna, IRCCS Ist Sci Neurol Bologna, Bologna, Italy [27] Univ Antwerp, VIB Dept Mol Genet, Neurogenet Grp, Antwerp, Belgium [28] CHU Bordeaux, Serv Epileptol Clin, Bordeaux, France [29] Univ Hosp Udine, Inst Med, Dept Pediat, Udine, Italy [30] Univ Genoa, G Gaslini Inst, Pediat Neurol & Muscular Dis Unit, Dept Neurosci Rehabil Ophthalmol [31] Witten Herdecke Univ, Childrens Hosp Datteln, Dept Pediat Neurol, Datteln, Germany [32] Univ Copenhagen, Danish Epilepsy Ctr, Copenhagen, Denmark [33] Queens Univ, Div Neurol & Respirol, Dept Med, Kingston, ON, Canada [34] CHU Dijon, Serv Neurophysiol & Pediat 1, Dijon, France [35] Strasbourg Univ, CNRS, INSERM, IGBMC, Strasbourg, France [36] Univ Med Ctr, Brain Ctr Rudolf Magnus, Dept Child Neurol, Utrecht, Netherlands [37] Danish Epilepsy Ctr, Dianalund, Denmark [38] CHU, Serv Neurol, Unite Epileptol, F-49033 Angers, France [39] Univ Hosp Lyon HCL, Paediat Clin Epileptol Sleep disorders & Funct Ne, Lyon, France [40] UPMC Univ Paris 06, Sorbonne Univ, UMR S 1127, F-75013 Paris, France [41] CHU Reims, Amer Mem Hosp, Serv Pediat, REIMS, F-51092 Reims, France [42] Univ Hosp Strasbourg, Dept Neurol, Ctr Reference Epilepsies Rares, Strasbourg, France [43] Charles Univ Prague, Fac Med 2, Motol Univ Hosp, Dept Paediat Neurol, Prague, Czech Republic [44] Antwerp Univ Hosp, Dept Pediat Neurol, Edegem, Belgium [45] Univ Bourgogne, CHU Dijon, Ctr Reference Anomalies Dev & Syndromes Malformat, Dijon, France [46] Hosp Civils Lyon GHE, Serv Genet, Lyon, France [47] Univ Med Ctr Utrecht, Dept Genet, Utrecht, Netherlands [48] Leiden Univ, Med Ctr, Leiden, Netherlands [49] Clin Bernoise, Crans Montana, Switzerland [50] Saxon Epilepsy Ctr Kleinwachau, Radeberg, Germany [51] Kinderneurol Zentrum, Dusseldorf, Germany [52] CHU Reims, Hop Maison Blanche, Pole Biol, Serv Genet, F-51092 Reims, France [53] Univ Hosp Strasbourg, Dept Pediat, Ctr Reference Epilepsies Rares, Strasbourg, France [54]
发布时间 2019-11-14
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