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De novo variants in GABRA2 and GABRA5 alter receptor function and contribute to early-onset epilepsy.
Butler, Kameryn M; Moody, Olivia A; Schuler, Elisabeth; Coryell, Jason; Alexander, John J; Jenkins, Andrew; Escayg, Andrew.
Affiliation
  • Butler KM; Department of Human Genetics, Emory University, Atlanta, Georgia, 30322, USA.
  • Moody OA; Genetics and Molecular Biology Program, Graduate Division of Biological and Biomedical Sciences, Laney Graduate School, Emory University, Atlanta, Georgia, 30322, USA.
  • Schuler E; Departments of Anesthesiology and Pharmacology, Emory University, Atlanta, Georgia, 30322, USA.
  • Coryell J; Neuroscience Program, Graduate Division of Biological and Biomedical Sciences, Laney Graduate School, Emory University, Atlanta, Georgia, 30322, USA.
  • Alexander JJ; Department for Pediatric Metabolic Medicine and Neurology, University Children's Hospital, Heidelberg, 69120, Germany.
  • Jenkins A; Departments of Pediatrics and Neurology, School of Medicine, Oregon Health & Sciences University, Portland, Oregon, 97239, USA.
  • Escayg A; Department of Human Genetics, Emory University, Atlanta, Georgia, 30322, USA.
Brain ; 141(8): 2392-2405, 2018 08 01.
Article in En | MEDLINE | ID: mdl-29961870
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Epilepsies, Myoclonic / Receptors, GABA-A Limits: Child / Humans Language: En Journal: Brain Year: 2018 Type: Article Affiliation country: United States
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Epilepsies, Myoclonic / Receptors, GABA-A Limits: Child / Humans Language: En Journal: Brain Year: 2018 Type: Article Affiliation country: United States