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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
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  Data: Thorase variants are associated with defects in glutamatergic neurotransmission that can be rescued by Perampanel.
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  Data: <searchLink fieldCode="AU" term="%22Umanah+GKE%22">Umanah GKE</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Pignatelli+M%22">Pignatelli M</searchLink>; Intramural Research Program, National Institute on Drug Abuse, Baltimore, MD 21224, USA.<br /><searchLink fieldCode="AU" term="%22Yin+X%22">Yin X</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Chen+R%22">Chen R</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Crawford+J%22">Crawford J</searchLink>; Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.<br /><searchLink fieldCode="AU" term="%22Neifert+S%22">Neifert S</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Scarffe+L%22">Scarffe L</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Behensky+AA%22">Behensky AA</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Guiberson+N%22">Guiberson N</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Chang+M%22">Chang M</searchLink>; Solomon H. Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.<br /><searchLink fieldCode="AU" term="%22Ma+E%22">Ma E</searchLink>; School of Public Health, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.<br /><searchLink fieldCode="AU" term="%22Kim+JW%22">Kim JW</searchLink>; Department of Biology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.<br /><searchLink fieldCode="AU" term="%22Castro+CC%22">Castro CC</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Mao+X%22">Mao X</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Chen+L%22">Chen L</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Andrabi+SA%22">Andrabi SA</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Pletnikov+MV%22">Pletnikov MV</searchLink>; Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.<br /><searchLink fieldCode="AU" term="%22Pulver+AE%22">Pulver AE</searchLink>; Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.<br /><searchLink fieldCode="AU" term="%22Avramopoulos+D%22">Avramopoulos D</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Bonci+A%22">Bonci A</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Valle+D%22">Valle D</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Dawson+TM%22">Dawson TM</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Dawson+VL%22">Dawson VL</searchLink>; 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.
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