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GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine.
Pierson, Tyler Mark; Yuan, Hongjie; Marsh, Eric D; Fuentes-Fajardo, Karin; Adams, David R; Markello, Thomas; Golas, Gretchen; Simeonov, Dimitre R; Holloman, Conisha; Tankovic, Anel; Karamchandani, Manish M; Schreiber, John M; Mullikin, James C; Tifft, Cynthia J; Toro, Camilo; Boerkoel, Cornelius F; Traynelis, Stephen F; Gahl, William A.
Afiliação
  • Pierson TM; NIH Undiagnosed Diseases Program, NIH Office of Rare Diseases Research and NHGRI, Bethesda, MD, USA ; Neurogenetics Branch, NINDS, NIH, Bethesda, MD, USA ; Department of Pediatrics and Neurology, and the Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
  • Yuan H; Department of Pharmacology, Emory University School of Medicine, Atlanta, GA, USA.
  • Marsh ED; Division of Neurology, Children's Hospital of Philadelphia and Department of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
  • Fuentes-Fajardo K; NIH Undiagnosed Diseases Program, NIH Office of Rare Diseases Research and NHGRI, Bethesda, MD, USA.
  • Adams DR; NIH Undiagnosed Diseases Program, NIH Office of Rare Diseases Research and NHGRI, Bethesda, MD, USA ; Medical Genetics Branch, NHGRI, NIH, Bethesda, MD, USA.
  • Markello T; NIH Undiagnosed Diseases Program, NIH Office of Rare Diseases Research and NHGRI, Bethesda, MD, USA ; Office of the Clinical Director, NHGRI, NIH, Bethesda, MD, USA.
  • Golas G; NIH Undiagnosed Diseases Program, NIH Office of Rare Diseases Research and NHGRI, Bethesda, MD, USA ; Office of the Clinical Director, NHGRI, NIH, Bethesda, MD, USA.
  • Simeonov DR; NIH Undiagnosed Diseases Program, NIH Office of Rare Diseases Research and NHGRI, Bethesda, MD, USA.
  • Holloman C; NIH Undiagnosed Diseases Program, NIH Office of Rare Diseases Research and NHGRI, Bethesda, MD, USA ; Office of the Clinical Director, NHGRI, NIH, Bethesda, MD, USA.
  • Tankovic A; Department of Pharmacology, Emory University School of Medicine, Atlanta, GA, USA.
  • Karamchandani MM; Department of Pharmacology, Emory University School of Medicine, Atlanta, GA, USA.
  • Schreiber JM; EEG Section, NINDS, NIH, Bethesda, MD, USA.
  • Mullikin JC; NIH Intramural Sequencing Center, NHGRI, NIH, Bethesda, MD, USA.
  • Tifft CJ; NIH Undiagnosed Diseases Program, NIH Office of Rare Diseases Research and NHGRI, Bethesda, MD, USA ; Division of Neurology, Children's Hospital of Philadelphia and Department of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
  • Toro C; NIH Undiagnosed Diseases Program, NIH Office of Rare Diseases Research and NHGRI, Bethesda, MD, USA ; Division of Neurology, Children's Hospital of Philadelphia and Department of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
  • Boerkoel CF; NIH Undiagnosed Diseases Program, NIH Office of Rare Diseases Research and NHGRI, Bethesda, MD, USA ; Division of Neurology, Children's Hospital of Philadelphia and Department of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
  • Traynelis SF; Department of Pharmacology, Emory University School of Medicine, Atlanta, GA, USA.
  • Gahl WA; NIH Undiagnosed Diseases Program, NIH Office of Rare Diseases Research and NHGRI, Bethesda, MD, USA ; Division of Neurology, Children's Hospital of Philadelphia and Department of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
Ann Clin Transl Neurol ; 1(3): 190-198, 2014 Mar 01.
Article em En | MEDLINE | ID: mdl-24839611
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Screening_studies Idioma: En Ano de publicação: 2014 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Screening_studies Idioma: En Ano de publicação: 2014 Tipo de documento: Article