Mutational and phenotypic expansion of ATP1A3-related disorders: Report of nine cases.

Ponghatai Boonsimma 1, Marius Michael Gasser 2, Wiracha Netbaramee 3, Thanin Wechapinan 4, Chalurmpon Srichomthong 1, Chupong Ittiwut 1, Matias Wagner 5, Martin Krenn 6, Fritz Zimprich 7, Angela Abicht 8, Saskia Biskup 9, Timo Roser 2, Ingo Borggraefe 10, Kanya Suphapeetiporn 11, Vorasuk Shotelersuk 1.
  1. Division of Medical Genetics and Metabolism, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok 10330, Thailand.
  2. Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Haunersches Childrens Hospital, Ludwig Maximilians University of Munich, Germany.
  3. Division of Neurology, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand.
  4. Division of Neurology, Department of Pediatrics, Faculty of Medicine, Queen Sirikit National Institute of Child Health, Bangkok 10400, Thailand.
  5. Institute of Human Genetics, Klinikum Rechts der Isar, Technical University of Munich, Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany; Institute for Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany.
  6. Institute of Human Genetics, Klinikum Rechts der Isar, Technical University of Munich, Munich, Germany; Department of Neurology, Medical University of Vienna, Vienna, Austria.
  7. Department of Neurology, Medical University of Vienna, Vienna, Austria.
  8. Medical Genetic Center Munich, Munich, Germany; Department of Neurology, Friedrich-Baur-Institute, Klinikum der Ludwig-Maximilians-Universität München, Munich, Germany.
  9. Praxis für Humangenetik und CeGaT GmbH, Paul-Ehrlich-Str. 23, Tuebingen, Germany.
  10. Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Haunersches Childrens Hospital, Ludwig Maximilians University of Munich, Germany; Comprehensive Epilepsy Center, Ludwig Maxiliams University of Munich, Germany.
  11. Division of Medical Genetics and Metabolism, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok 10330, Thailand. Electronic address: kanya.su@chula.ac.th.