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GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers.
Li, Dong; Yuan, Hongjie; Ortiz-Gonzalez, Xilma R; Marsh, Eric D; Tian, Lifeng; McCormick, Elizabeth M; Kosobucki, Gabrielle J; Chen, Wenjuan; Schulien, Anthony J; Chiavacci, Rosetta; Tankovic, Anel; Naase, Claudia; Brueckner, Frieder; von Stülpnagel-Steinbeis, Celina; Hu, Chun; Kusumoto, Hirofumi; Hedrich, Ulrike B S; Elsen, Gina; Hörtnagel, Konstanze; Aizenman, Elias; Lemke, Johannes R; Hakonarson, Hakon; Traynelis, Stephen F; Falk, Marni J.
Afiliación
  • Li D; Center for Applied Genomics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Yuan H; Department of Pharmacology and Center for Functional Evaluation of Rare Variant (CFERV), Emory University School of Medicine, Rollins Research Center, Atlanta, GA 30322, USA.
  • Ortiz-Gonzalez XR; Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.
  • Marsh ED; Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.
  • Tian L; Center for Applied Genomics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • McCormick EM; Center for Applied Genomics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Kosobucki GJ; Department of Neurobiology, Pittsburgh Institute for Neurodegenerative Diseases, University of Pittsburgh School of Medicine, Pittsburgh, PA 15261, USA.
  • Chen W; Department of Pharmacology and Center for Functional Evaluation of Rare Variant (CFERV), Emory University School of Medicine, Rollins Research Center, Atlanta, GA 30322, USA.
  • Schulien AJ; Department of Neurobiology, Pittsburgh Institute for Neurodegenerative Diseases, University of Pittsburgh School of Medicine, Pittsburgh, PA 15261, USA.
  • Chiavacci R; Center for Applied Genomics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Tankovic A; Department of Pharmacology and Center for Functional Evaluation of Rare Variant (CFERV), Emory University School of Medicine, Rollins Research Center, Atlanta, GA 30322, USA.
  • Naase C; Children's Hospital Bayreuth, 95445 Bayreuth, Germany.
  • Brueckner F; Institute for Neuropediatrics and Social Pediatrics Hamburg East, 22111 Hamburg, Germany.
  • von Stülpnagel-Steinbeis C; Hospital for Neuropediatrics and Neurological Rehabilitation, Epilepsy Center for Children and Adolescents, 83569 Vogtareuth, Germany; Institute for Transition, Rehabilitation and Palliation in Children and Adolescents, Paracelsus Medical University Salzburg, 5020 Salzburg, Austria.
  • Hu C; Department of Pharmacology and Center for Functional Evaluation of Rare Variant (CFERV), Emory University School of Medicine, Rollins Research Center, Atlanta, GA 30322, USA.
  • Kusumoto H; Department of Pharmacology and Center for Functional Evaluation of Rare Variant (CFERV), Emory University School of Medicine, Rollins Research Center, Atlanta, GA 30322, USA.
  • Hedrich UB; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany.
  • Elsen G; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany.
  • Hörtnagel K; CeGaT GmbH, 72076 Tübingen, Germany.
  • Aizenman E; Department of Neurobiology, Pittsburgh Institute for Neurodegenerative Diseases, University of Pittsburgh School of Medicine, Pittsburgh, PA 15261, USA.
  • Lemke JR; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, 04103 Leipzig, Germany.
  • Hakonarson H; Center for Applied Genomics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelp
  • Traynelis SF; Department of Pharmacology and Center for Functional Evaluation of Rare Variant (CFERV), Emory University School of Medicine, Rollins Research Center, Atlanta, GA 30322, USA.
  • Falk MJ; University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA. Electronic address: falkm@email.chop.edu.
Am J Hum Genet ; 99(4): 802-816, 2016 Oct 06.
Article en En | MEDLINE | ID: mdl-27616483
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Espasmos Infantiles / Receptores de N-Metil-D-Aspartato / Genes Dominantes / Mutación Tipo de estudio: Etiology_studies / Prognostic_studies Idioma: En Revista: Am J Hum Genet Año: 2016 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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XML
PubMed Links
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Espasmos Infantiles / Receptores de N-Metil-D-Aspartato / Genes Dominantes / Mutación Tipo de estudio: Etiology_studies / Prognostic_studies Idioma: En Revista: Am J Hum Genet Año: 2016 Tipo del documento: Article País de afiliación: Estados Unidos