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A de novo missense variant in GABRA4 alters receptor function in an epileptic and neurodevelopmental phenotype.
Vogel, Florian D; Krenn, Martin; Westphal, Dominik S; Graf, Elisabeth; Wagner, Matias; Leiz, Steffen; Koniuszewski, Filip; Augé-Stock, Maximilian; Kramer, Georg; Scholze, Petra; Ernst, Margot.
Affiliation
  • Vogel FD; Department of Pathobiology of the Nervous System, Center for Brain Research, Medical University Vienna, Vienna, Austria.
  • Krenn M; Department of Neurology, Medical University of Vienna, Vienna, Austria.
  • Westphal DS; Institute of Human Genetics, School of Medicine, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.
  • Graf E; Institute of Human Genetics, School of Medicine, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.
  • Wagner M; Department of Internal Medicine I, School of Medicine, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.
  • Leiz S; Institute of Human Genetics, School of Medicine, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.
  • Koniuszewski F; Institute of Human Genetics, School of Medicine, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.
  • Augé-Stock M; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany.
  • Kramer G; Department of Pediatrics, Dr. von Hauner Children's Hospital, LMU University Hospital, Munich, Germany.
  • Scholze P; Division of Pediatric Neurology, LMU Center for Development and Children with Medical Complexity, Ludwig-Maximilians-University Munich, Munich, Germany.
  • Ernst M; Divison of Neuropediatrics, Klinikum Dritter Orden, Munich, Germany.
Epilepsia ; 63(4): e35-e41, 2022 04.
Article in En | MEDLINE | ID: mdl-35152403
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Receptors, GABA-A / Mutation, Missense / Epilepsy / Neurodevelopmental Disorders Limits: Humans Language: En Journal: Epilepsia Year: 2022 Document type: Article
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Receptors, GABA-A / Mutation, Missense / Epilepsy / Neurodevelopmental Disorders Limits: Humans Language: En Journal: Epilepsia Year: 2022 Document type: Article