De novo variants in GABRA2 and GABRA5 alter receptor function and contribute to early-onset epilepsy

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  • Kameryn M Butler
    Department of Human Genetics, Emory University, Atlanta, Georgia, 30322, USA
  • Olivia A Moody
    Departments of Anesthesiology and Pharmacology, Emory University, Atlanta, Georgia, 30322, USA
  • Elisabeth Schuler
    Department for Pediatric Metabolic Medicine and Neurology, University Children’s Hospital, Heidelberg, 69120, Germany
  • Jason Coryell
    Departments of Pediatrics and Neurology, School of Medicine, Oregon Health & Sciences University, Portland, Oregon, 97239, USA
  • John J Alexander
    Department of Human Genetics, Emory University, Atlanta, Georgia, 30322, USA
  • Andrew Jenkins
    Departments of Anesthesiology and Pharmacology, Emory University, Atlanta, Georgia, 30322, USA
  • Andrew Escayg
    Department of Human Genetics, Emory University, Atlanta, Georgia, 30322, USA

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  • Brain

    Brain 141 (8), 2392-2405, 2018-06-28

    Oxford University Press (OUP)

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