第一作者:
Sara,Baldassari
第一单位:
Sorbonne Université, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris, France.;INSERM, U1127, F-75013 Paris, France.;CNRS, UMR 7225, F-75013 Paris, France.;Institut du Cerveau et de la Moelle épinière (ICM), Hôpital Pitié-Salpêtrière, F-75013 Paris, France.;Department of Genetics, Assistance Publique des Hôpitaux de Paris (AP-HP), Hôpital Pitié-Salpêtrière, F-75013 Paris, France.
作者:
Sara,Baldassari [1]
;
Fabienne,Picard [2]
;
Nienke E,Verbeek [3]
;
Marjan,van Kempen [3]
;
Eva H,Brilstra [3]
;
Gaetan,Lesca [4]
;
Valerio,Conti [5]
;
Renzo,Guerrini [5]
;
Francesca,Bisulli [6]
;
Laura,Licchetta [6]
;
Tommaso,Pippucci [7]
;
Paolo,Tinuper [6]
;
Edouard,Hirsch [8]
;
Anne,de Saint Martin [9]
;
Jamel,Chelly [10]
;
Gabrielle,Rudolf [10]
;
Mathilde,Chipaux [11]
;
Sarah,Ferrand-Sorbets [11]
;
Georg,Dorfmüller [11]
;
Sanjay,Sisodiya [12]
;
Simona,Balestrini [12]
;
Natasha,Schoeler [12]
;
Laura,Hernandez-Hernandez [12]
;
S,Krithika [12]
;
Renske,Oegema [3]
;
Eveline,Hagebeuk [13]
;
Boudewijn,Gunning [13]
;
Charles,Deckers [13]
;
Bianca,Berghuis [13]
;
Ilse,Wegner [13]
;
Erik H,Niks [14]
;
Floor E,Jansen [15]
;
Kees,Braun [15]
;
Daniëlle,de Jong [16]
;
Guido,Rubboli [17]
;
Inga,Talvik [18]
;
Valentin,Sander [18]
;
Peter,Uldall [19]
;
Marie-Line,Jacquemont [20]
;
Caroline,Nava [1]
;
Eric,Leguern [1]
;
Sophie,Julia [21]
;
Antonio,Gambardella [22]
;
Giuseppe,d'Orsi [23]
;
Giovanni,Crichiutti [24]
;
Laurence,Faivre [25]
;
Veronique,Darmency [26]
;
Barbora,Benova [27]
;
Pavel,Krsek [27]
;
Arnaud,Biraben [28]
;
Anne-Sophie,Lebre [29]
;
Mélanie,Jennesson [30]
;
Shifteh,Sattar [31]
;
Cécile,Marchal [32]
;
Douglas R,NordliJr [33]
;
Kristin,Lindstrom [34]
;
Pasquale,Striano [35]
;
Lysa Boissé,Lomax [36]
;
Courtney,Kiss [37]
;
Fabrice,Bartolomei [38]
;
Anne Fabienne,Lepine [38]
;
An-Sofie,Schoonjans [39]
;
Katrien,Stouffs [40]
;
Anna,Jansen [40]
;
Eleni,Panagiotakaki [41]
;
Brigitte,Ricard-Mousnier [42]
;
Julien,Thevenon [43]
;
Julitta,de Bellescize [41]
;
Hélène,Catenoix [41]
;
Thomas,Dorn [44]
;
Martin,Zenker [45]
;
Karen,Müller-Schlüter [46]
;
Christian,Brandt [47]
;
Ilona,Krey [48]
;
Tilman,Polster [47]
;
Markus,Wolff [49]
;
Meral,Balci [50]
;
Kevin,Rostasy [50]
;
Guillaume,Achaz [51]
;
Pia,Zacher [52]
;
Thomas,Becher [53]
;
Thomas,Cloppenborg [47]
;
Christopher J,Yuskaitis [54]
;
Sarah,Weckhuysen [55]
;
Annapurna,Poduri [54]
;
Johannes R,Lemke [48]
;
Rikke S,Møller [56]
;
Stéphanie,Baulac [57]
作者单位:
Sorbonne Université, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris, France.;INSERM, U1127, F-75013 Paris, France.;CNRS, UMR 7225, F-75013 Paris, France.;Institut du Cerveau et de la Moelle épinière (ICM), Hôpital Pitié-Salpêtrière, F-75013 Paris, France.;Department of Genetics, Assistance Publique des Hôpitaux de Paris (AP-HP), Hôpital Pitié-Salpêtrière, F-75013 Paris, France.
[1]
Department of Clinical Neurosciences, University Hospitals and Medical School of Geneva, Geneva, Switzerland.
[2]
Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
[3]
Service de Génétique, Hospices Civils de Lyon - GHE; CNRS UMR 5292, INSERM U1028, CNRL, et Université Claude Bernard Lyon 1, GHE, Lyon, France.
[4]
Pediatric Neurology, Neurogenetics, and Neurobiology Unit and Laboratories, A. Meyer Children's Hospital, Florence, Italy.
[5]
IRCCS, Istituto delle Scienze Neurologiche of Bologna; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
[6]
Medical Genetics Unit, Polyclinic Sant' Orsola-Malpighi University Hospital, Bologna, Italy.
[7]
Department of Neurology-centre de référence des epilepsies rares, University Hospital of Strasbourg, Strasbourg, France.
[8]
Department of Pediatrics - centre de référence des épilepsies rares, University Hospital of Strasbourg, Strasbourg, France.
[9]
IGBMC, INSERM, CNRS, Strasbourg University, Strasbourg, France.
[10]
Department of Pediatric Neurosurgery, Fondation Rothschild, F-75013 Paris, France.
[11]
Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, WC1N 3BG, and Chalfont Centre for Epilepsy, Bucks, UK.
[12]
Stichting Epilepsie Instellingen Nederland, Zwolle/Heemstede, The Netherlands.
[13]
Leiden University Medical Center, Leiden, The Netherlands.
[14]
Department of Child Neurology, Brain Center Rudolf Magnus, University Medical Center, Utrecht, The Netherlands.
[15]
Department of Neurology, Academic Center for Epileptology Kempenhaeghe, Heeze, The Netherlands.
[16]
Danish Epilepsy Centre, Dianalund, University of Copenhagen, Copenhagen, Denmark.
[17]
Department of Neurology and Rehabilitation, Tallinn Children's Hospital, Tallinn, Estonia.
[18]
Danish Epilepsy Centre, Dianalund, Denmark.
[19]
Unit of Medical Genetics, CHU La Réunion, Saint Pierre F-97448, France.
[20]
Service de Génétique Médicale, Pavillon Lefebvre, Hôpital Purpan CHU Toulouse, Toulouse, France.
[21]
Institute of Neurology, Department of Medical and Surgical Sciences, University Magna Græcia, Catanzaro, Italy.
[22]
Epilepsy Center, Clinic of Nervous System Diseases, University of Foggia, Riuniti Hospital, Foggia, Italy.
[23]
Department of Pediatrics, Institute of Medicine, University Hospital of Udine, Udine, Italy.
[24]
Centre de Référence Anomalies du Développement et Syndromes Malformatifs et FHU TRANSLAD, CHU de Dijon et Université de Bourgogne, Dijon, France.
[25]
Service de neurophysiologie et pédiatrie 1, CHU de Dijon, Dijon, France.
[26]
Department of Paediatric Neurology, Motol University Hospital, 2nd faculty of medicine Charles University, Prague, Czech Republic.
[27]
Centre Hospitalier Universitaire de Rennes, F-35000 Rennes, France.
[28]
CHU Reims, Hôpital Maison Blanche, Pôle de Biologie, Service de Génétique, Reims F-51092, France.
[29]
CHU Reims, American Memorial Hospital, Service de Pédiatrie, Reims F-51092, France.
[30]
Department of Pediatric Neurology, Rady Children's Hospital/University of California, San Diego, CA, USA.
[31]
Service d'Epileptologie Clinique, CHU de Bordeaux, France.
[32]
Children's Hospital Los Angeles, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
[33]
Division of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, Arizona, USA.
[34]
Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, "G. Gaslini" Institute, Genova, Italy.
[35]
Department of Medicine, Divisions of Neurology and Respirology, Queen's University, Kingston, Ontario, Canada.;Kingston Health Sciences Centre, Kingston, Ontario K7L 2V7, Canada.
[36]
Kingston Health Sciences Centre, Kingston, Ontario K7L 2V7, Canada.
[37]
Pediatric Neurology Department, Timone Hospital, APHM, Marseille, France.
[38]
Department of Pediatric Neurology, Antwerp University Hospital, Edegem, Belgium.
[39]
Vrije Universiteit Brussel (VUB), Universitair Ziekenhuis Brussel (UZ Brussel), Neurogenetics Research Group, Laarbeeklaan 101, 1090 Brussels, Belgium.
[40]
Paediatric Clinical Epileptology, Sleep disorders and Functional Neurology, University Hospitals of Lyon (HCL), Lyon, France.
[41]
Unité d'épileptologie, Service de Neurologie, CHU, Angers, France.
[42]
Inserm UMR 1231 GAD Team, Genetics of Developmental Anomalies, et FHU-TRANSLAD, CHU/Université de Bourgogne-Franche Comté, Dijon, France.
[43]
Clinique Bernoise, Crans-, Montana, Switzerland.
[44]
Institute of Human Genetics, University Hospital, Magdeburg, Germany.
[45]
Epilepsy Center for Children, Brandenburg Medical School, University Hospital, Neuruppin, Germany.
[46]
Bethel Epilepsy Centre, Bielefeld, Germany.
[47]
Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany.
[48]
Department of Pediatric Neurology and Developmental Medicine, University Children's Hospital, Tübingen, Germany.
[49]
Department of Pediatric Neurology, Children's Hospital Datteln, Witten/Herdecke University, Datteln, Germany.
[50]
Institut de Systématique, Evolution, Biodiversité, ISYEB, UMR 7205 CNRS MNHN UPMC EPHE, Paris, France.
[51]
The Saxon Epilepsy Center Kleinwachau, Radeberg, Germany.
[52]
Kinderneurologisches Zentrum, Düsseldorf-Gerresheim, Sana Kliniken, Düsseldorf, Germany.
[53]
Department of Neurology, F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusetts, USA.;Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program, Boston Children's Hospital, Boston, Massachusetts, USA.;Department of Neurology, Harvard Medical School, Boston, Massachusetts, USA.
[54]
Neurogenetics Group, VIB-Department of Molecular Genetics, University of Antwerp, Antwerp, Belgium.
[55]
Danish Epilepsy Centre, Dianalund; Institute for Regional Health research, University of Southern Denmark, Odense, Denmark.
[56]
Sorbonne Université, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris, France. stephanie.baulac@upmc.fr.;INSERM, U1127, F-75013 Paris, France. stephanie.baulac@upmc.fr.;CNRS, UMR 7225, F-75013 Paris, France. stephanie.baulac@upmc.fr.;Institut du Cerveau et de la Moelle épinière (ICM), Hôpital Pitié-Salpêtrière, F-75013 Paris, France. stephanie.baulac@upmc.fr.;Department of Genetics, Assistance Publique des Hôpitaux de Paris (AP-HP), Hôpital Pitié-Salpêtrière, F-75013 Paris, France. stephanie.baulac@upmc.fr.
[57]
DOI
10.1038/s41436-018-0325-9
PMID
30262923
发布时间
2022-02-11
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Genetics in medicine
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