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Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy.
XiangWei, Wenshu; Kannan, Varun; Xu, Yuchen; Kosobucki, Gabrielle J; Schulien, Anthony J; Kusumoto, Hirofumi; Moufawad El Achkar, Christelle; Bhattacharya, Subhrajit; Lesca, Gaetan; Nguyen, Sylvie; Helbig, Katherine L; Cuisset, Jean-Marie; Fenger, Christina Dühring; Marjanovic, Dragan; Schuler, Elisabeth; Wu, Ye; Bao, Xinhua; Zhang, Yuehua; Dirkx, Nina; Schoonjans, An-Sofie; Syrbe, Steffen; Myers, Scott J; Poduri, Annapurna; Aizenman, Elias; Traynelis, Stephen F; Lemke, Johannes R; Yuan, Hongjie; Jiang, Yuwu.
Afiliación
  • XiangWei W; Department of Pediatrics and Pediatric Epilepsy Center, Peking University First Hospital, Beijing, China.
  • Kannan V; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA, USA.
  • Xu Y; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA, USA.
  • Kosobucki GJ; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA, USA.
  • Schulien AJ; Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
  • Kusumoto H; Department of Neurobiology, University of Pittsburgh School of Medicine and Pittsburgh Institute for Neurodegenerative Diseases, Pittsburgh PA, USA.
  • Moufawad El Achkar C; Department of Neurobiology, University of Pittsburgh School of Medicine and Pittsburgh Institute for Neurodegenerative Diseases, Pittsburgh PA, USA.
  • Bhattacharya S; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA, USA.
  • Lesca G; Division of Epilepsy, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.
  • Nguyen S; Department of Neurology, Harvard Medical School, Boston, MA, USA.
  • Helbig KL; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA, USA.
  • Cuisset JM; Service de Genetique, Centre de Reference Anomalies du Developpement, Hospices Civils de Lyon, Bron, France; INSERM U1028, CNRS UMR5292, Paris, France.
  • Fenger CD; Centre de Recherche en Neurosciences de Lyon, GENDEV Team, Universite Claude Bernard Lyon 1, Bron, France; Claude Bernard Lyon I University, Lyon, France.
  • Marjanovic D; Department of Pediatric Neurology, University Hospital of Lille, and Lille Reference Centre for Rare Epileptic Disorders, Lille, France.
  • Schuler E; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Wu Y; Department of Pediatric Neurology, University Hospital of Lille, and Lille Reference Centre for Rare Epileptic Disorders, Lille, France.
  • Bao X; Danish Epilepsy Centre Filadelfia, Dianalund, Denmark.
  • Zhang Y; Danish Epilepsy Centre Filadelfia, Dianalund, Denmark.
  • Dirkx N; Division of Child Neurology and Inherited Metabolic Diseases, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Schoonjans AS; Department of Pediatrics and Pediatric Epilepsy Center, Peking University First Hospital, Beijing, China.
  • Syrbe S; Department of Pediatrics and Pediatric Epilepsy Center, Peking University First Hospital, Beijing, China.
  • Myers SJ; Department of Pediatrics and Pediatric Epilepsy Center, Peking University First Hospital, Beijing, China.
  • Poduri A; Neurogenetics Group, University of Antwerp, Belgium.
  • Aizenman E; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
  • Traynelis SF; Department of Child Neurology, Antwerp University Hospital, Antwerp, Belgium.
  • Lemke JR; Division of Child Neurology and Inherited Metabolic Diseases, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Yuan H; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA, USA.
  • Jiang Y; Center for Functional Evaluation of Rare Variants (CFERV), Emory University School of Medicine, Atlanta, GA, USA.
Brain ; 142(10): 3009-3027, 2019 10 01.
Article en En | MEDLINE | ID: mdl-31504254
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Epilepsia Generalizada / Receptores de N-Metil-D-Aspartato Límite: Adult / Animals / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Brain Año: 2019 Tipo del documento: Article País de afiliación: China Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Epilepsia Generalizada / Receptores de N-Metil-D-Aspartato Límite: Adult / Animals / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Brain Año: 2019 Tipo del documento: Article País de afiliación: China Pais de publicación: Reino Unido