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Exome sequencing in patients with antiepileptic drug exposure and complex phenotypes
  1. Adam Jackson1,
  2. Heather Ward2,
  3. Rebecca Louise Bromley3,4,
  4. Charulata Deshpande5,
  5. Pradeep Vasudevan6,
  6. Ingrid Scurr7,
  7. John Dean8,
  8. Nora Shannon9,
  9. Jonathon Berg10,
  10. Susan Holder11,
  11. Diana Baralle12,
  12. Jill Clayton-Smith13
  13. DDD Study
  1. 1Blackpool Teaching Hospitals NHS Trust, Blackpool, UK
  2. 2Manchester Centre for Genomic Medicine, St Mary’s Hospital, Manchester, UK
  3. 3Division of Evolution and Genomic Science, University of Manchester, Manchester, UK
  4. 4Paediatric Psychosocial Department, Royal Manchester Children's Hospital, Manchester, UK
  5. 5Clinical Genetics Department, Guy’s and St Thomas’ NHS Foundation Trust, Guy’s Hospital, London, UK
  6. 6Department of Clinical Genetics, University Hospitals Leicester NHS Trust, Leicester, UK
  7. 7Department of Clinical Genetics, University Hospitals Bristol NHS Foundation Trust, Bristol, UK
  8. 8Clinical Genetics Centre, University of Aberdeen College of Life Sciences and Medicine, Aberdeen, UK
  9. 9Clinical Genetics Service, Nottingham City Hospital, Nottingham, UK
  10. 10Department of Clinical Genetics, Ninewells Hospital and Medical School, University of Dundee, Dundee, UK
  11. 11North West Thames Regional Genetics Service, Northwick Park and St Mark’s Hospitals, London, UK
  12. 12Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK
  13. 13Genetic Medicine, Central Manchester University Hospitals Foundation Trust, Manchester, UK
  1. Correspondence to Dr Adam Jackson, Blackpool Teaching Hospitals NHS Trust, Blackpool FY3 8NR, UK; adam.jackson{at}doctors.org.uk

Footnotes

  • Collaborators DDD Study Group Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.

  • Contributors AJ wrote the article and performed data searches and analysis. RB and JC-S supervised the project and helped conceive the idea for the study. HW performed analysis of CMA variants. CD, PV, IS, JD, NS, JB, SH, DB all provided phenotypic data on their patients and constructive comments for the manuscript. The DDD study provided exome data.

  • Funding The DDD study presents independent research commissioned by the Health Innovation Challenge Fund (grant number HICF-1009-003), a parallel funding partnership between Wellcome and the Department of Health, and the Wellcome Sanger Institute (grant number WT098051). The study has UK Research Ethics Committee approval (10/H0305/83, granted by the Cambridge South REC, and GEN/284/12 granted by the Republic of Ireland REC).

  • Disclaimer The views expressed in this publication are those of the authors and not necessarily those of Wellcome or the Department of Health.

  • Competing interests None declared.

  • Patient consent for publication Not required.

  • Ethics approval Ethical approval was obtained for the study from the relevant bodies (REC 16/NW/0788).

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Data availability statement Data are available on reasonable request.

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Footnotes

  • Collaborators DDD Study Group Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.

  • Contributors AJ wrote the article and performed data searches and analysis. RB and JC-S supervised the project and helped conceive the idea for the study. HW performed analysis of CMA variants. CD, PV, IS, JD, NS, JB, SH, DB all provided phenotypic data on their patients and constructive comments for the manuscript. The DDD study provided exome data.

  • Funding The DDD study presents independent research commissioned by the Health Innovation Challenge Fund (grant number HICF-1009-003), a parallel funding partnership between Wellcome and the Department of Health, and the Wellcome Sanger Institute (grant number WT098051). The study has UK Research Ethics Committee approval (10/H0305/83, granted by the Cambridge South REC, and GEN/284/12 granted by the Republic of Ireland REC).

  • Disclaimer The views expressed in this publication are those of the authors and not necessarily those of Wellcome or the Department of Health.

  • Competing interests None declared.

  • Patient consent for publication Not required.

  • Ethics approval Ethical approval was obtained for the study from the relevant bodies (REC 16/NW/0788).

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Data availability statement Data are available on reasonable request.

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