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Thorase variants are associated with defects in glutamatergic neurotransmission that can be rescued by Perampanel

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Science Translational Medicine  13 Dec 2017:
Vol. 9, Issue 420, eaah4985
DOI: 10.1126/scitranslmed.aah4985

Article Information

vol. 9 no. 420

PubMed: 
Print ISSN: 
Online ISSN: 
History: 
  • Received for publication July 5, 2016
  • Resubmitted January 20, 2017
  • Accepted for publication June 1, 2017

Author Information

  1. George K. E. Umanah1,2,
  2. Marco Pignatelli3,
  3. Xiling Yin1,2,
  4. Rong Chen1,2,
  5. Joshua Crawford4,
  6. Stewart Neifert1,2,
  7. Leslie Scarffe1,2,5,
  8. Adam A. Behensky1,2,
  9. Noah Guiberson1,2,
  10. Melissa Chang5,
  11. Erica Ma6,
  12. Jin Wan Kim7,
  13. Cibele C. Castro1,8,
  14. Xiaobo Mao1,2,
  15. Li Chen1,2,
  16. Shaida A. Andrabi1,2,
  17. Mikhail V. Pletnikov4,
  18. Ann E. Pulver4,
  19. Dimitrios Avramopoulos4,9,
  20. Antonello Bonci3,4,
  21. David Valle9,10,
  22. Ted M. Dawson1,2,5,11,* and
  23. Valina L. Dawson1,2,5,12,*
  1. 1Neuroregeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  2. 2Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  3. 3Intramural Research Program, National Institute on Drug Abuse, Baltimore, MD 21224, USA.
  4. 4Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  5. 5Solomon H. Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  6. 6School of Public Health, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  7. 7Department of Biology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  8. 8Department of Biochemistry, Institute for Basic Health Sciences, Federal University of Rio Grande do Sul, Porto Alegre, RS, Brazil.
  9. 9McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  10. 10Department of Molecular and Comparative Pathobiology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  11. 11Department of Pharmacology and Molecular Sciences, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  12. 12Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  1. *Corresponding author. Email: vdawson{at}jhmi.edu (V.L.D.); tdawson{at}jhmi.edu (T.M.D.)

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