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

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Title: Thorase variants are associated with defects in glutamatergic neurotransmission that can be rescued by Perampanel.
Authors: Umanah GKE; Neuroregeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Pignatelli M; Intramural Research Program, National Institute on Drug Abuse, Baltimore, MD 21224, USA., Yin X; Neuroregeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Chen R; Neuroregeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Crawford J; Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Neifert S; Neuroregeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Scarffe L; Neuroregeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.; Solomon H. Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Behensky AA; Neuroregeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Guiberson N; Neuroregeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Chang M; Solomon H. Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Ma E; School of Public Health, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Kim JW; Department of Biology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Castro CC; Neuroregeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.; Department of Biochemistry, Institute for Basic Health Sciences, Federal University of Rio Grande do Sul, Porto Alegre, RS, Brazil., Mao X; Neuroregeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Chen L; Neuroregeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Andrabi SA; Neuroregeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Pletnikov MV; Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Pulver AE; Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Avramopoulos D; Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Bonci A; Intramural Research Program, National Institute on Drug Abuse, Baltimore, MD 21224, USA.; Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Valle D; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.; Department of Molecular and Comparative Pathobiology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Dawson TM; Neuroregeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA. vdawson@jhmi.edu tdawson@jhmi.edu.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.; Solomon H. Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.; Department of Pharmacology and Molecular Sciences, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Dawson VL; Neuroregeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA. vdawson@jhmi.edu tdawson@jhmi.edu.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.; Solomon H. Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.; Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Source: Science translational medicine [Sci Transl Med] 2017 Dec 13; Vol. 9 (420).
Publication Type: Journal Article
Journal Info: Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101505086 Publication Model: Print Cited Medium: Internet ISSN: 1946-6242 (Electronic) Linking ISSN: 19466234 NLM ISO Abbreviation: Sci Transl Med Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1946-6242
DOI:10.1126/scitranslmed.aah4985