GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine.,Annals of Clinical and Translational Neurology

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GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine.
Annals of Clinical and Translational Neurology ( IF 5.3 ) Pub Date : 2014-03-03 , DOI: 10.1002/acn3.39
Tyler Mark Pierson ₁ , Hongjie Yuan ₂ , Eric D Marsh ₃ , Karin Fuentes-Fajardo ₄ , David R Adams ₅ , Thomas Markello ₆ , Gretchen Golas ₆ , Dimitre R Simeonov ₄ , Conisha Holloman ₆ , Anel Tankovic ₂ , Manish M Karamchandani ₂ , John M Schreiber ₇ , James C Mullikin ₈ , , Cynthia J Tifft ₉ , Camilo Toro ₉ , Cornelius F Boerkoel ₉ , Stephen F Traynelis ₂ , William A Gahl ₉

Affiliation

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.
Department of Pharmacology, Emory University School of Medicine, Atlanta, GA, 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.
NIH Undiagnosed Diseases Program, NIH Office of Rare Diseases Research and NHGRI, Bethesda, MD, USA.
NIH Undiagnosed Diseases Program, NIH Office of Rare Diseases Research and NHGRI, Bethesda, MD, USA ; Medical Genetics Branch, NHGRI, NIH, Bethesda, MD, USA.
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.
EEG Section, NINDS, NIH, Bethesda, MD, USA.
NIH Intramural Sequencing Center, NHGRI, NIH, Bethesda, MD, USA.
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.

Early‐onset epileptic encephalopathies have been associated with de novo mutations of numerous ion channel genes. We employed techniques of modern translational medicine to identify a disease‐causing mutation, analyze its altered behavior, and screen for therapeutic compounds to treat the proband.

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