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GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.

PubWeight™: 0.75‹?›

🔗 View Article (PMID 28377535)

Published in J Med Genet on April 04, 2017

Authors

Konrad Platzer1, Hongjie Yuan2,3, Hannah Schütz4, Alexander Winschel4, Wenjuan Chen2, Chun Hu2, Hirofumi Kusumoto2, Henrike O Heyne1, Katherine L Helbig5, Sha Tang5, Marcia C Willing6, Brad T Tinkle7, Darius J Adams8, Christel Depienne9,10,11,12, Boris Keren9,10, Cyril Mignot10, Eirik Frengen13, Petter Strømme14, Saskia Biskup15, Dennis Döcker15, Tim M Strom16, Heather C Mefford17, Candace T Myers17, Alison M Muir17, Amy LaCroix17, Lynette Sadleir18, Ingrid E Scheffer19, Eva Brilstra20, Mieke M van Haelst20, Jasper J van der Smagt20, Levinus A Bok21, Rikke S Møller22,23, Uffe B Jensen24, John J Millichap25, Anne T Berg25, Ethan M Goldberg26,27, Isabelle De Bie28, Stephanie Fox28, Philippe Major29, Julie R Jones30, Elaine H Zackai31, Rami Abou Jamra1,32, Arndt Rolfs32, Richard J Leventer33,34, John A Lawson35, Tony Roscioli36, Floor E Jansen37, Emmanuelle Ranza38, Christian M Korff39, Anna-Elina Lehesjoki40,41, Carolina Courage40,41, Tarja Linnankivi42, Douglas R Smith43, Christine Stanley43, Mark Mintz44, Dianalee McKnight45, Amy Decker45, Wen-Hann Tan46, Mark A Tarnopolsky47, Lauren I Brady47, Markus Wolff48, Lutz Dondit49, Helio F Pedro50, Sarah E Parisotto50, Kelly L Jones51, Anup D Patel52,53, David N Franz54, Rena Vanzo55, Elysa Marco56, Judith D Ranells57, Nataliya Di Donato58, William B Dobyns59,60,61, Bodo Laube4, Stephen F Traynelis2,3, Johannes R Lemke1

Author Affiliations

1: Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany.
2: Department of Pharmacology, Emory University School of Medicine, Rollins Research Center, Atlanta, Georgia, USA.
3: Center for Functional Evaluation of Rare Variants (CFERV), Emory University School of Medicine, Atlanta, Georgia, USA.
4: Department of Neurophysiology and Neurosensory Systems, Technical University Darmstadt, Darmstadt, Hessen, Germany.
5: Division of Clinical Genomics, Ambry Genetics, Aliso Viejo, California, USA.
6: Department of Pediatrics, Washington University in St. Louis School of Medicine, St. Louis, Missouri, USA.
7: Advocate Children's Hospital, Park Ridge, Illinois, USA.
8: Genetics and Metabolism, Goryeb Children's Hospital, Atlantic Health System, Morristown, New Jersey, USA.
9: INSERM, U 1127, Sorbonne Universités, UPMC Université Paris 06, CNRS, UMR 7225, Institut du cerveau et de la moelle épinière (ICM), Paris, France.
10: Département de Génétique, Centre de Référence des Déficiences Intellectuelles de Causes Rares, GRC UPMC "Déficiences Intellectuelles et Autisme", Hôpital de la Pitié-Salpêtrière, Paris, France.
11: UMR 7104/INSERM U964/Université de Strasbourg, Illkirch, France.
12: Laboratoire de cytogénétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
13: Department of Medical Genetics, Oslo University Hospitals and University of Oslo, Oslo, Norway.
14: Department of Pediatrics, Oslo University Hospitals and University of Oslo, Oslo, Norway.
15: Practice for Human Genetics and CeGaT GmbH, Tübingen, Germany.
16: Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.
17: Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington, USA.
18: Department of Paediatrics and Child Health, University of Otago, Wellington, New Zealand.
19: Department of Medicine, University of Melbourne, Austin Health and Royal Children's Hospital, Melbourne, Victoria, Australia.
20: Department of Genetics, Utrecht University Medical Center, Utrecht, The Netherlands.
21: Department of Paediatrics, Màxima Medical Centre, Veldhoven, The Netherlands.
22: The Danish Epilepsy Centre Filadelfia, Dianalund, Denmark.
23: Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark.
24: Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.
25: Departments of Pediatrics, Epilepsy Center and Division of Neurology Ann & Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
26: Division of Neurology, The Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
27: Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
28: Department of Medical Genetics, Montreal Children's Hospital, McGill University Health Center, Montreal, Canada.
29: Department of Neurological Sciences, Université de Montréal, CHU Ste-Justine, Montreal, Canada.
30: Greenwood Genetic Center, Greenwood, South Carolina, USA.
31: Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
32: Centogene AG, Rostock, Germany.
33: Department of Neurology, Royal Children's Hospital, Melbourne, Victoria, Australia.
34: Murdoch Childrens Research Institute and Department of Pediatrics, University of Melbourne, Melbourne, Victoria, Australia.
35: Department of Neurology, Sydney Children's Hospital, Sydney, New South Wales, Australia.
36: Genome.One, Sydney, New South Wales, Australia.
37: Department of Child Neurology, Brain Center Rudolf Magnus, University Medical Center, Utrecht, The Netherlands.
38: Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland.
39: Department of Child and Adolescent, Neurology Unit, University Hospitals of Geneva, Geneva, Switzerland.
40: The Folkhälsan Institute of Genetics, University of Helsinki, Helsinki, Finland.
41: Research Programs Unit, Molecular Neurology and Neuroscience Center, University of Helsinki, Helsinki, Finland.
42: Department of Pediatric Neurology, Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
43: Courtagen Life Sciences, Woburn, Massachusetts, USA.
44: The Center for Neurological and Neurodevelopmental Health and the Clinical Research Center of New Jersey, Voorhees, New Jersey, USA.
45: GeneDx, Gaithersburg, Maryland, USA.
46: Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.
47: Department of Pediatrics, McMaster University Children's Hospital, Hamilton, Ontario, Canada.
48: Department of Pediatric Neurology and Developmental Medicine, University Children's Hospital, Tubingen, Germany.
49: Department of Pediatric Neurology and Center for Developmental Medicine, Olgahospital Stuttgart, Stuttgart, Germany.
50: Hackensack University Medical Center, Hackensack, New Jersey, USA.
51: Department of Pediatrics, Division of Medical Genetics, University of Mississippi Medical Center, Jackson, Mississippi, USA.
52: Nationwide Children's Hospital, Columbus, Ohio, USA.
53: The Ohio State University College of Medicine, Columbus, Ohio, USA.
54: Department of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
55: Lineagen, Inc., Salt Lake City, Utah, USA.
56: Department of Neurology, University of San Francisco School of Medicine, San Francisco, California, USA.
57: Department of Pediatrics, University of South Florida, Tampa, Florida, USA.
58: Institute for Clinical Genetics, Carl Gustav Carus Faculty of Medicine, TU Dresden, Dresden, Germany.
59: Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.
60: Department of Pediatrics, University of Washington, Seattle, Washington, USA.
61: Department of Neurology, University of Washington, Seattle, Washington, USA.

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