A point mutation in the ion conduction pore of AMPA receptor GRIA3 causes dramatically perturbed sleep patterns as well as intellectual disability

Author:

Davies Benjamin1,Brown Laurence A2,Cais Ondrej3,Watson Jake3ORCID,Clayton Amber J1,Chang Veronica T3,Biggs Daniel1,Preece Christopher1,Hernandez-Pliego Polinka1,Krohn Jon1,Bhomra Amarjit1,Twigg Stephen R F4,Rimmer Andrew5,Kanapin Alexander16,Sen Arjune7,Zaiwalla Zenobia8,McVean Gil19,Foster Russell2,Donnelly Peter110,Taylor Jenny C111,Blair Edward12,Nutt David13,Aricescu A Radu3,Greger Ingo H3,Peirson Stuart N2,Flint Jonathan14,Martin Hilary C15,

Affiliation:

1. Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, Oxfordshire OX3 7BN, UK

2. Nuffield Department of Clinical Neurosciences, Sleep and Circadian Neuroscience Institute, University of Oxford, Oxford, Oxfordshire OX3 9DU, UK

3. Medical Research Council (MRC) Laboratory of Molecular Biology, Neurobiology Division, Cambridge, Cambridgeshire CB2 0QH, UK

4. Clinical Genetics Group, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, Oxfordshire OX3 9DS, UK

5. Institute for Cancer Research, London SM2 5NG, UK

6. Department of Oncology, University of Oxford, Oxford, Oxfordshire OX3 7DQ, UK

7. Oxford Epilepsy Research Group, NIHR Biomedical Research Centre, Nuffield Department of Clinical Neuroscience, John Radcliffe Hospital, Oxford OX3 9DU, UK

8. Department of Neuroscience, John Radcliffe Hospital, Oxford, Oxfordshire OX3 9DU, UK

9. Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford, Oxfordshire OX3 7FZ, UK

10. Department of Statistics, University of Oxford, Oxford, Oxfordshire OX1 3LB, UK

11. National Institute for Health Research Oxford Biomedical Research Centre (NIHR Oxford BRC), Oxford, Oxfordshire OX3 7LE, UK

12. Department of Clinical Genetics, Oxford University Hospitals NHS Trust, Oxford, Oxfordshire OX3 7HE, UK

13. Division of Brain Sciences, Department of Medicine, Centre for Neuropsychopharmacology, Imperial College London, London W12 0NN, UK

14. Center for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, University of California-Los Angeles, CA 90095, USA

15. Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire CB10 1SA, UK

Funder

Wellcome Trust

Medical Research Council

Publisher

Oxford University Press (OUP)

Subject

Genetics(clinical),Genetics,Molecular Biology,General Medicine

Reference66 articles.

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