요약정보
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
- Resource Type
- Academic Journal
- Authors
- Gorman KM; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK; Department of Neurology, Great Ormond Street Hospital, London WC1N 3JH, UK.; Meyer E; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK.; Grozeva D; Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 OXY, UK; Division of Psychological Medicine and Clinical Neuroscience, MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff, UK.; Spinelli E; Epilepsy Center, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA.; McTague A; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK; Department of Neurology, Great Ormond Street Hospital, London WC1N 3JH, UK.; Sanchis-Juan A; Department of Haematology, University of Cambridge, NHS Blood and Transplant Centre, Cambridge CB2 0PT, UK; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge CB2 0QQ UK.; Carss KJ; Department of Haematology, University of Cambridge, NHS Blood and Transplant Centre, Cambridge CB2 0PT, UK; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge CB2 0QQ UK.; Bryant E; Epilepsy Center, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA; Division of Genetics, Birth Defects and Metabolism, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA.; Reich A; GeneDx, Gaithersburg, MD 20877, USA.; Schneider AL; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg 3084, VIC, Australia.; Pressler RM; Department of Clinical Neurophysiology, Great Ormond Street Hospital, London WC1N 3JH, UK; Clinical Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK.; Simpson MA; Division of Genetics and Molecular Medicine, King's College, London WC2R 2LS, UK.; Debelle GD; Department of General Paediatrics, Birmingham Children's Hospital, Birmingham B4 6NH, UK.; Wassmer E; Department of Paediatric Neurology, Birmingham Children's Hospital, Birmingham B4 6NH, UK.; Morton J; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's NHS Foundation Trust, Birmingham B15 2TG, UK.; Sieciechowicz D; Epilepsy Center, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA; Departments of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA.; Jan-Kamsteeg E; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, Netherlands.; Paciorkowski AR; Department of Neurology, Pediatrics and Biomedical Genetics, University of Rochester Medical Center, Rochester, NY 14642, USA.; King MD; Department of Neurology and Clinical Neurophysiology, Children's University Hospital, Temple Street, Dublin DO1 YC67, Ireland; Academic Centre on Rare Diseases, School of Medicine and Medical Science, University College Dublin, Dublin 4, Ireland.; Cross JH; Department of Neurology, Great Ormond Street Hospital, London WC1N 3JH, UK; Departments of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA.; Poduri A; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA.; Mefford HC; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.; Scheffer IE; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg 3084, VIC, Australia; Florey Institute and Murdoch Institute of Neuroscience and Mental Health, Parkville, 3052, VIC, Australia; Department of Paediatrics, Royal Children's Hospital, University of Melbourne, Parkville, 3052, VIC, Australia.; Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen 72706, Germany.; McCullagh G; Department of Neurology, Royal Manchester Children's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester M13 9WL, UK.; Millichap JJ; Division of Psychological Medicine and Clinical Neuroscience, MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff, UK; Departments of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA; Ken and Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA.; Carvill GL; Ken and Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA.; Clayton-Smith J; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals, NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester M13 9WL, UK; Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester M13 9NT, UK.; Maher ER; Department of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre, Cambridge CB2 0QQ, UK.; Raymond FL; Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 OXY, UK; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge CB2 0QQ UK.; Kurian MA; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK; Department of Neurology, Great Ormond Street Hospital, London WC1N 3JH, UK. Electronic address: manju.kurian@ucl.ac.uk.
- Source
- Publisher:
Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN:00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE - Subject
- Language
- English