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

Autor: Platzer K; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany., Yuan H; Department of Pharmacology, Emory University School of Medicine, Rollins Research Center, Atlanta, Georgia, USA.; Center for Functional Evaluation of Rare Variants (CFERV), Emory University School of Medicine, Atlanta, Georgia, USA., Schütz H; Department of Neurophysiology and Neurosensory Systems, Technical University Darmstadt, Darmstadt, Hessen, Germany., Winschel A; Department of Neurophysiology and Neurosensory Systems, Technical University Darmstadt, Darmstadt, Hessen, Germany., Chen W; Department of Pharmacology, Emory University School of Medicine, Rollins Research Center, Atlanta, Georgia, USA., Hu C; Department of Pharmacology, Emory University School of Medicine, Rollins Research Center, Atlanta, Georgia, USA., Kusumoto H; Department of Pharmacology, Emory University School of Medicine, Rollins Research Center, Atlanta, Georgia, USA., Heyne HO; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany., Helbig KL; Division of Clinical Genomics, Ambry Genetics, Aliso Viejo, California, USA., Tang S; Division of Clinical Genomics, Ambry Genetics, Aliso Viejo, California, USA., Willing MC; Department of Pediatrics, Washington University in St. Louis School of Medicine, St. Louis, Missouri, USA., Tinkle BT; Advocate Children's Hospital, Park Ridge, Illinois, USA., Adams DJ; Genetics and Metabolism, Goryeb Children's Hospital, Atlantic Health System, Morristown, New Jersey, USA., Depienne C; INSERM, U 1127, Sorbonne Universités, UPMC Université Paris 06, CNRS, UMR 7225, Institut du cerveau et de la moelle épinière (ICM), Paris, France.; 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.; UMR 7104/INSERM U964/Université de Strasbourg, Illkirch, France.; Laboratoire de cytogénétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Keren B; INSERM, U 1127, Sorbonne Universités, UPMC Université Paris 06, CNRS, UMR 7225, Institut du cerveau et de la moelle épinière (ICM), Paris, France.; 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., Mignot C; 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., Frengen E; Department of Medical Genetics, Oslo University Hospitals and University of Oslo, Oslo, Norway., Strømme P; Department of Pediatrics, Oslo University Hospitals and University of Oslo, Oslo, Norway., Biskup S; Practice for Human Genetics and CeGaT GmbH, Tübingen, Germany., Döcker D; Practice for Human Genetics and CeGaT GmbH, Tübingen, Germany., Strom TM; Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Mefford HC; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington, USA., Myers CT; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington, USA., Muir AM; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington, USA., LaCroix A; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington, USA., Sadleir L; Department of Paediatrics and Child Health, University of Otago, Wellington, New Zealand., Scheffer IE; Department of Medicine, University of Melbourne, Austin Health and Royal Children's Hospital, Melbourne, Victoria, Australia., Brilstra E; Department of Genetics, Utrecht University Medical Center, Utrecht, The Netherlands., van Haelst MM; Department of Genetics, Utrecht University Medical Center, Utrecht, The Netherlands., van der Smagt JJ; Department of Genetics, Utrecht University Medical Center, Utrecht, The Netherlands., Bok LA; Department of Paediatrics, Màxima Medical Centre, Veldhoven, The Netherlands., Møller RS; The Danish Epilepsy Centre Filadelfia, Dianalund, Denmark.; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark., Jensen UB; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark., Millichap JJ; 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., Berg AT; 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., Goldberg EM; Division of Neurology, The Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., De Bie I; Department of Medical Genetics, Montreal Children's Hospital, McGill University Health Center, Montreal, Canada., Fox S; Department of Medical Genetics, Montreal Children's Hospital, McGill University Health Center, Montreal, Canada., Major P; Department of Neurological Sciences, Université de Montréal, CHU Ste-Justine, Montreal, Canada., Jones JR; Greenwood Genetic Center, Greenwood, South Carolina, USA., Zackai EH; Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Abou Jamra R; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany.; Centogene AG, Rostock, Germany., Rolfs A; Centogene AG, Rostock, Germany., Leventer RJ; Department of Neurology, Royal Children's Hospital, Melbourne, Victoria, Australia.; Murdoch Childrens Research Institute and Department of Pediatrics, University of Melbourne, Melbourne, Victoria, Australia., Lawson JA; Department of Neurology, Sydney Children's Hospital, Sydney, New South Wales, Australia., Roscioli T; Genome.One, Sydney, New South Wales, Australia., Jansen FE; Department of Child Neurology, Brain Center Rudolf Magnus, University Medical Center, Utrecht, The Netherlands., Ranza E; Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland., Korff CM; Department of Child and Adolescent, Neurology Unit, University Hospitals of Geneva, Geneva, Switzerland., Lehesjoki AE; The Folkhälsan Institute of Genetics, University of Helsinki, Helsinki, Finland.; Research Programs Unit, Molecular Neurology and Neuroscience Center, University of Helsinki, Helsinki, Finland., Courage C; The Folkhälsan Institute of Genetics, University of Helsinki, Helsinki, Finland.; Research Programs Unit, Molecular Neurology and Neuroscience Center, University of Helsinki, Helsinki, Finland., Linnankivi T; Department of Pediatric Neurology, Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Smith DR; Courtagen Life Sciences, Woburn, Massachusetts, USA., Stanley C; Courtagen Life Sciences, Woburn, Massachusetts, USA., Mintz M; The Center for Neurological and Neurodevelopmental Health and the Clinical Research Center of New Jersey, Voorhees, New Jersey, USA., McKnight D; GeneDx, Gaithersburg, Maryland, USA., Decker A; GeneDx, Gaithersburg, Maryland, USA., Tan WH; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA., Tarnopolsky MA; Department of Pediatrics, McMaster University Children's Hospital, Hamilton, Ontario, Canada., Brady LI; Department of Pediatrics, McMaster University Children's Hospital, Hamilton, Ontario, Canada., Wolff M; Department of Pediatric Neurology and Developmental Medicine, University Children's Hospital, Tubingen, Germany., Dondit L; Department of Pediatric Neurology and Center for Developmental Medicine, Olgahospital Stuttgart, Stuttgart, Germany., Pedro HF; Hackensack University Medical Center, Hackensack, New Jersey, USA., Parisotto SE; Hackensack University Medical Center, Hackensack, New Jersey, USA., Jones KL; Department of Pediatrics, Division of Medical Genetics, University of Mississippi Medical Center, Jackson, Mississippi, USA., Patel AD; Nationwide Children's Hospital, Columbus, Ohio, USA.; The Ohio State University College of Medicine, Columbus, Ohio, USA., Franz DN; Department of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA., Vanzo R; Lineagen, Inc., Salt Lake City, Utah, USA., Marco E; Department of Neurology, University of San Francisco School of Medicine, San Francisco, California, USA., Ranells JD; Department of Pediatrics, University of South Florida, Tampa, Florida, USA., Di Donato N; Institute for Clinical Genetics, Carl Gustav Carus Faculty of Medicine, TU Dresden, Dresden, Germany., Dobyns WB; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.; Department of Pediatrics, University of Washington, Seattle, Washington, USA.; Department of Neurology, University of Washington, Seattle, Washington, USA., Laube B; Department of Neurophysiology and Neurosensory Systems, Technical University Darmstadt, Darmstadt, Hessen, Germany., Traynelis SF; Department of Pharmacology, Emory University School of Medicine, Rollins Research Center, Atlanta, Georgia, USA.; Center for Functional Evaluation of Rare Variants (CFERV), Emory University School of Medicine, Atlanta, Georgia, USA., Lemke JR; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany.

Publikováno v: Journal of medical genetics [J Med Genet] 2017 Jul; Vol. 54 (7), pp. 460-470. Date of Electronic Publication: 2017 Apr 04.