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Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases
Authors:Joseph D Symonds  Shelagh Joss  Kay A Metcalfe  Suresh Somarathi  Jamie Cruden  Anita M Devlin  Alan Donaldson  Nataliya DiDonato  David Fitzpatrick  Frank J Kaiser  Anne K Lampe  Melissa M Lees  Ailsa McLellan  Tara Montgomery  Vivek Mundada  Lesley Nairn  Ajoy Sarkar  Jens Schallner  Jelena Pozojevic  Ilaria Parenti  Jeen Tan  Peter Turnpenny  William P Whitehouse  The DDD Study  Sameer M Zuberi
Institution:1. The Paediatric Neurosciences Research Group, Royal Hospital for Children, Queen Elizabeth University Hospitals, Glasgow, United Kingdom;2. School of Medicine, University of Glasgow, Glasgow, United Kingdom;3. West of Scotland Clinical Genetics Service, Glasgow, United Kingdom;4. Manchester Centre for Genomic Medicine, Manchester Academic Health Sciences Centre, Manchester, United Kingdom;5. Division of Evolution and Genomic sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom;6. Department of Paediatrics, Victoria Infirmary, Kirkcaldy, United Kingdom;7. Paediatric Neurology, Great North Children's Hospital, Newcastle Acute Hospitals NHS Trust, Newcastle‐upon‐Tyne, United Kingdom;8. University of Bristol, Bristol, United Kingdom;9. Institute for Clinical Genetics, TU Dresden, Dresden, Germany;10. MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom;11. Section for Functional Genetics, Institute for Human Genetics, University of Lübeck, Lübeck, Germany;12. South East Scotland Clinical Genetic Service, Edinburgh, United Kingdom;13. Clinical Genetics, Great Ormond Street Hospital, London, United Kingdom;14. Department of Paediatric Neurosciences, Royal Hospital for Sick Children, Edinburgh, United Kingdom;15. Institute of Genetic Medicine, Newcastle‐upon‐Tyne, United Kingdom;16. Paediatric Neurology Royal London Hospital, London, United Kingdom;17. Department of Paediatrics, Royal Alexandra Hospital, Paisley, United Kingdom;18. Nottingham University Hospitals NHS Trust, Nottingham, United Kingdom;19. Carl Gustav Carus Hospital, at the TU Dresden, Dresden, Germany;20. Paediatric Neurology, Royal Manchester Children's Hospital, Manchester, United Kingdom;21. Peninsula Genetics, Exeter, United Kingdom;22. School of Medicine, University of Nottingham, Nottingham, United Kingdom;23. The Deciphering Developmental Disorders study, Wellcome Trust Sanger Institute, Hinxton, Cambridge, United Kingdom
Abstract:
Keywords:   SMC1A     Epilepsy  Cluster  X‐linked  Females  Intellectual disability
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