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GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.
Platzer, Konrad; Yuan, Hongjie; Schütz, Hannah; Winschel, Alexander; Chen, Wenjuan; Hu, Chun; Kusumoto, Hirofumi; Heyne, Henrike O; Helbig, Katherine L; Tang, Sha; Willing, Marcia C; Tinkle, Brad T; Adams, Darius J; Depienne, Christel; Keren, Boris; Mignot, Cyril; Frengen, Eirik; Strømme, Petter; Biskup, Saskia; Döcker, Dennis; Strom, Tim M; Mefford, Heather C; Myers, Candace T; Muir, Alison M; LaCroix, Amy; Sadleir, Lynette; Scheffer, Ingrid E; Brilstra, Eva; van Haelst, Mieke M; van der Smagt, Jasper J; Bok, Levinus A; Møller, Rikke S; Jensen, Uffe B; Millichap, John J; Berg, Anne T; Goldberg, Ethan M; De Bie, Isabelle; Fox, Stephanie; Major, Philippe; Jones, Julie R; Zackai, Elaine H; Abou Jamra, Rami; Rolfs, Arndt; Leventer, Richard J; Lawson, John A; Roscioli, Tony; Jansen, Floor E; Ranza, Emmanuelle; Korff, Christian M; Lehesjoki, Anna-Elina.
Afiliação
  • 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.
  • Schütz H; Center for Functional Evaluation of Rare Variants (CFERV), Emory University School of Medicine, Atlanta, Georgia, USA.
  • Winschel A; Department of Neurophysiology and Neurosensory Systems, Technical University Darmstadt, Darmstadt, Hessen, Germany.
  • Chen W; Department of Neurophysiology and Neurosensory Systems, Technical University Darmstadt, Darmstadt, Hessen, Germany.
  • 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; Department of Pharmacology, Emory University School of Medicine, Rollins Research Center, Atlanta, Georgia, USA.
  • Helbig KL; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany.
  • Tang S; Division of Clinical Genomics, Ambry Genetics, Aliso Viejo, California, USA.
  • Willing MC; Division of Clinical Genomics, Ambry Genetics, Aliso Viejo, California, USA.
  • Tinkle BT; Department of Pediatrics, Washington University in St. Louis School of Medicine, St. Louis, Missouri, USA.
  • Adams DJ; Advocate Children's Hospital, Park Ridge, Illinois, USA.
  • Depienne C; Genetics and Metabolism, Goryeb Children's Hospital, Atlantic Health System, Morristown, New Jersey, USA.
  • 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.
  • 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; UMR 7104/INSERM U964/Université de Strasbourg, Illkirch, France.
  • Strømme P; Laboratoire de cytogénétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
  • Biskup S; INSERM, U 1127, Sorbonne Universités, UPMC Université Paris 06, CNRS, UMR 7225, Institut du cerveau et de la moelle épinière (ICM), Paris, France.
  • Döcker D; 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.
  • Strom TM; 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.
  • Mefford HC; Department of Medical Genetics, Oslo University Hospitals and University of Oslo, Oslo, Norway.
  • Myers CT; Department of Pediatrics, Oslo University Hospitals and University of Oslo, Oslo, Norway.
  • Muir AM; Practice for Human Genetics and CeGaT GmbH, Tübingen, Germany.
  • LaCroix A; Practice for Human Genetics and CeGaT GmbH, Tübingen, Germany.
  • Sadleir L; Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.
  • Scheffer IE; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington, USA.
  • Brilstra E; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington, USA.
  • van Haelst MM; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington, USA.
  • van der Smagt JJ; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington, USA.
  • Bok LA; Department of Paediatrics and Child Health, University of Otago, Wellington, New Zealand.
  • Møller RS; Department of Medicine, University of Melbourne, Austin Health and Royal Children's Hospital, Melbourne, Victoria, Australia.
  • Jensen UB; Department of Genetics, Utrecht University Medical Center, Utrecht, The Netherlands.
  • Millichap JJ; Department of Genetics, Utrecht University Medical Center, Utrecht, The Netherlands.
  • Berg AT; Department of Genetics, Utrecht University Medical Center, Utrecht, The Netherlands.
  • Goldberg EM; Department of Paediatrics, Màxima Medical Centre, Veldhoven, The Netherlands.
  • De Bie I; The Danish Epilepsy Centre Filadelfia, Dianalund, Denmark.
  • Fox S; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark.
  • Major P; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.
  • Jones JR; 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.
  • Zackai EH; 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.
  • Abou Jamra R; Division of Neurology, The Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  • Rolfs A; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  • Leventer RJ; Department of Medical Genetics, Montreal Children's Hospital, McGill University Health Center, Montreal, Canada.
  • Lawson JA; Department of Medical Genetics, Montreal Children's Hospital, McGill University Health Center, Montreal, Canada.
  • Roscioli T; Department of Neurological Sciences, Université de Montréal, CHU Ste-Justine, Montreal, Canada.
  • Jansen FE; Greenwood Genetic Center, Greenwood, South Carolina, USA.
  • Ranza E; Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Korff CM; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany.
  • Lehesjoki AE; Centogene AG, Rostock, Germany.
J Med Genet ; 54(7): 460-470, 2017 07.
Article em En | MEDLINE | ID: mdl-28377535
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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Encefalopatias / Receptores de N-Metil-D-Aspartato / Mutação Tipo de estudo: Diagnostic_studies Limite: Humans Idioma: En Revista: J Med Genet Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Alemanha
Texto completo
Adicionar na Minha BVS
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XML
PubMed Links
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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Encefalopatias / Receptores de N-Metil-D-Aspartato / Mutação Tipo de estudo: Diagnostic_studies Limite: Humans Idioma: En Revista: J Med Genet Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Alemanha