Authors: Küry, Sébastien, van Woerden, Geeske, M, Besnard, Thomas, Onori, Martina, Proietti, Latypova, Xénia, Towne, Meghan, C, Cho, Megan, T, Prescott, Trine, E, Ploeg, Melissa, A, Sanders, Stephan, J., Stessman, Holly, A.F., Pujol, Aurora, Distel, Ben, Robak, Laurie, A, Bernstein, Jonathan, A., Denommé-Pichon, Anne-Sophie, Lesca, Gaëtan, Sellars, Elizabeth, A, Berg, Jonathan, Carré, Wilfrid, Busk, Øyvind, Løvold, van Bon, Bregje, W.M., Waugh, Jeff, L, Deardorff, Matthew, A., Hoganson, George, E, Bosanko, Katherine, B, Johnson, Diana, S., Dabir, Tabib, Lunde Holla, Øystein, Sarkar, Ajoy, Tveten, Kristian, de Bellescize, Julitta, Braathen, Geir, J., Terhal, Paulien, A, Grange, Dorothy, K, van Haeringen, Arie, Lam, Christina, Mirzaa, Ghayda, Burton, Jennifer, Bhoj, Elizabeth, J., Douglas, Jessica, Santani, Avni, B., Nesbitt, Addie, I., Helbig, Katherine, L., Andrews, Marisa, V., Begtrup, Amber, Tang, Sha, van Gassen, Koen L.I., Juusola, Jane, Foss, Kimberly, Enns, Gregory, M., Moog, Ute, Hinderhofer, Katrin, Paramasivam, Nagarajan, Lincoln, Sharyn, Kusako, Brandon, H., Lindenbaum, Pierre, Charpentier, Eric, Nowak, Catherine, B., Cherot, Elouan, Simonet, Thomas, Ruivenkamp, Claudia A.L., Hahn, Sihoun, Brownstein, Catherine, A., Xia, Fan, Schmitt, Sébastien, Deb, Wallid, Bonneau, Dominique, Nizon, Mathilde, Quinquis, Delphine, Chelly, Jamel, Rudolf, Gabrielle, Sanlaville, Damien, Parent, Philippe, Gilbert-Dussardier, Brigitte, Toutain, Annick, Sutton, Vernon, R., Thies, Jenny, Peart-Vissers, Lisenka E.L.M., Boisseau, Pierre, Vincent, Marie, Grabrucker, Andreas, M., Dubourg, Christèle, Diseases Network, Undiagnosed, Tan, Wen-Hann, Verbeek, Nienke, E., Granzow, Martin, Santen, Gijs W.E., Shendure, Jay, Isidor, Bertrand, Pasquier, Laurent, Redon, Richard, Yang, Yaping, State, Matthew, W., Kleefstra, Tjitske, Cogné, Benjamin, Hugo, Gem, Study, Deciphering, Developmental Disorders, Petrovski, Slavé, Retterer, Kyle, Eichler, Evan, E., Rosenfeld, Jill, A., Agrawal, Pankaj, B., Bézieau, Stéphane, Odent, Sylvie, Elgersma, Ype, Mercier, Sandra
Contributors: Service de génétique médicale CHU Nantes, Centre Hospitalier Universitaire de Nantes (CHU Nantes), Department of Neuroscience Rotterdam, the Netherlands, Erasmus University Medical Center Rotterdam (Erasmus MC), Expertise Center for Neurodevelopmental Disorders Rotterdam, the Netherlands (ENCORE), Genomics Program and Division of Genetics Boston, USA, Harvard Medical School Boston (HMS)-Boston Children's Hospital-The Manton Center for Orphan Disease Research, Gene Discovery Core Boston, MA, USA ( The Manton Center for Orphan Disease Research), Harvard Medical School Boston (HMS)-Boston Children's Hospital, GeneDx Gaithersburg, MD, USA, Department of Medical Genetics Skien, Norway, Telemark Hospital Trust Skien, Norway, Department of Psychiatry San Francisco, CA, USA, University of California San Francisco (UC San Francisco), University of California (UC)-University of California (UC), Department of Genome Sciences Seattle (GS), University of Washington Seattle, Department of Pharmacology Omaha, NE, USA, Creighton University Medical School Omaha, NE, USA, Neurometabolic Diseases Laboratory Barcelona, Spain, Institut d'Investigació Biomèdica de Bellvitge = Bellvitge Biomedical Research Institute (IDIBELL), Centre for Biomedical Research on Rare Diseases Barcelona, Spain (CIBERER), Hospital Sant Joan de Déu Barcelona, Institució Catalana de Recerca i Estudis Avançats = Catalan Institution for Research and Advanced Studies (ICREA), Department of Medical Biochemistry Amsterdam, the Netherlands (Academic Medical Center), University of Amsterdam Amsterdam = Universiteit van Amsterdam (UvA), Department of Molecular and Human Genetics Houston, USA, Baylor College of Medecine, Department of Pediatrics Stanford, Stanford Medicine, Stanford University-Stanford University, Département de Biochimie et Génétique Angers, Université d'Angers (UA)-Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Biologie Neurovasculaire et Mitochondriale Intégrée (BNMI), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de Génétique HCL, Lyon (Centre de Référence des Anomalies du Développement), Hospices civils de Lyon (HCL), Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Section of Genetics and Metabolism Little Rock, AR, USA, University of Arkansas for Medical Sciences (UAMS), Molecular and Clinical Medicine Dundee, UK (School of Medicine), University of Dundee UK -Ninewells Hospital & Medical School Dundee, UK, Laboratoire de génétique moléculaire et génomique médicale CHU Rennes, Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Ponchaillou, Department of Human Genetics Nijmegen, Radboud University Medical Center Nijmegen, Department of Neurology Boston, Harvard Medical School Boston (HMS)-Massachusetts General Hospital Boston, Department of Pediatrics Philadelphia, PA, USA (Division of Genetics), Children’s Hospital of Philadelphia (CHOP ), Department of Pediatrics Chicago, IL, USA (College of Medicine), University of Illinois Chicago (UIC), University of Illinois System-University of Illinois System, Sheffield Children's NHS Foundation Trust, Northern Ireland Regional Genetics Centre Belfast, UK, Belfast City Hospital-Belfast Health and Social Care Trust, Nottingham Regional Genetics Service Nottingham, UK, Nottingham University Hospitals NHS Trust (NUH)-City Hospital Campus Nottingham, UK, Département d'Epilepsie, Sommeil et Neurophysiologie Pédiatrique HCL, Lyon, Hospices Civils de Lyon (HCL), Department of Genetics Utrecht, the Netherlands, University Medical Center Utrecht, Department of Pediatrics Saint Louis, MO, USA (Division of Genetics and Genomic Medicine), Washington University in Saint Louis (WUSTL), Department of Clinical Genetics Leiden, the Netherlands, Leiden University Medical Center (LUMC), Universiteit Leiden = Leiden University -Universiteit Leiden = Leiden University, Department of Pediatrics Seattle, WA, USA, University of Washington Seattle -Seattle Children’s Hospital, Center for Integrative Brain Research Seattle, WA, USA, University of Washington Seattle -Seattle Children's Research Institute, The Center for Applied Genomics Philadelphia, PA, USA, Division of Human Genetics Philadelphia, PA, USA, Department of Pathology and Laboratory Medicine Philadelphia, PA, USA, University of Pennsylvania-Perelman School of Medicine, University of Pennsylvania, Department of Pathology and Laboratory Medicine Philadelphia, PA, USA (Perelman School of Medicine), Division of Clinical Genomics Aliso Viejo, CA, USA, Ambry Genetics Aliso Viejo, CA, USA, Division of Neurology Philadelphia, PA, USA, Institute of Human Genetics Heidelberg, Germany, Universität Heidelberg Heidelberg = Heidelberg University, University of Heidelberg, Medical Faculty, ITX - unité de recherche de l'institut du thorax (ITX), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN), Laboratoire de Diagnostic Génétique CHU Strasbourg, Université de Strasbourg (UNISTRA)-Centre Hospitalier Universitaire Strasbourg (CHU Strasbourg), Les Hôpitaux Universitaires de Strasbourg (HUS)-Les Hôpitaux Universitaires de Strasbourg (HUS), Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg (UNISTRA)
Superior Title: ISSN: 0002-9297.
Subject Terms: NMDAR, CAMK2B, CAMK2, de novo mutations, intellectual disability, synaptic plasticity, AMPAR, CAMK2A, [SDV.CAN]Life Sciences [q-bio]/Cancer
Relation: info:eu-repo/semantics/altIdentifier/pmid/29100089; inserm-01813739; https://inserm.hal.science/inserm-01813739; https://inserm.hal.science/inserm-01813739/document; https://inserm.hal.science/inserm-01813739/file/main_Bezieau2018Eq1.pdf; PUBMED: 29100089; PUBMEDCENTRAL: PMC5673671
