De novo mutations in GRIN1 cause extensive bilateral polymicrogyria

Author:

Fry Andrew E12ORCID,Fawcett Katherine A3,Zelnik Nathanel45,Yuan Hongjie67,Thompson Belinda A N28,Shemer-Meiri Lilach4,Cushion Thomas D2,Mugalaasi Hood1,Sims David3,Stoodley Neil9,Chung Seo-Kyung10,Rees Mark I10,Patel Chirag V11,Brueton Louise A12,Layet Valérie13,Giuliano Fabienne14,Kerr Michael P1516,Banne Ehud17,Meiner Vardiella18,Lerman-Sagie Tally19,Helbig Katherine L20,Kofman Laura H21,Knight Kristin M21,Chen Wenjuan622,Kannan Varun6,Hu Chun6,Kusumoto Hirofumi6,Zhang Jin623,Swanger Sharon A6,Shaulsky Gil H6,Mirzaa Ghayda M2425,Muir Alison M24,Mefford Heather C24,Dobyns William B242526ORCID,Mackenzie Amanda B8,Mullins Jonathan G L27,Lemke Johannes R28,Bahi-Buisson Nadia29,Traynelis Stephen F67,Iago Heledd F27,Pilz Daniela T230

Affiliation:

1. Institute of Medical Genetics, University Hospital of Wales, Cardiff CF14 4XW, UK

2. Division of Cancer and Genetics, School of Medicine, Cardiff University, Cardiff CF14 4XN, UK

3. MRC Computational Genomics Analysis and Training Programme (CGAT), MRC Centre for Computational Biology, MRC Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford OX3 9DS, UK

4. Pediatric Neurology Unit, Carmel Medical Center, Haifa, Israel

5. Bruce and Ruth Rappaport Faculty of Medicine, Technion, Haifa, Israel

6. Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA 30322, USA

7. Center for Functional Evaluation of Rare Variants (CFERV), Emory University School of Medicine, Atlanta, GA 30322, USA

8. Department of Pharmacy and Pharmacology, University of Bath, Claverton Down, Bath BA2 7AY, UK

9. Department of Neuroradiology, North Bristol NHS Trust, Frenchay Hospital, Bristol BS16 1LE, UK

10. Neurology and Molecular Neuroscience Research, Institute of Life Science, Swansea University Medical School, Swansea University, Swansea SA2 8PP, UK

11. Genetic Health Queensland, Royal Brisbane and Women’s Hospital Campus, Herston, Brisbane, Queensland 4029, Australia

12. West Midlands Regional Genetics Service, Clinical Genetics Unit, Birmingham Women’s Hospital, Birmingham B15 2TG, UK

13. Service de Génétique Médicale, Groupe Hospitalier du Havre, Hôpital Jacques Monod, Le Havre, France

14. Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice, Nice, France

15. MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff CF24 4HQ, UK

16. Learning Disabilities Directorate, Abertawe Bro Morgannwg University NHS Trust, Treseder Way, Caerau, Cardiff CF5 5WF, UK

17. Clinical Genetics Institute, Kaplan Medical Centre, Rehovot, Israel

18. Department of Genetics and Metabolic Diseases, Hadassah-Hebrew University Hospital, Jerusalem, Israel

19. Pediatric Neurology Unit, Wolfson Medical Centre, Holon, Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel

20. Division of Neurology, Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA

21. Kaiser Permanente Mid-Atlantic States, McLean, VA 22102, USA

22. Department of Neurology, Xiangya Hospital, Central South University, Changsha 410013, China

23. Department of Neurology, the First Hospital of Shanxi Medical University, Taiyuan, 030001, China

24. Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA

25. Center for Integrative Brain Research, Seattle Children’s Research Institute, Seattle, WA 98195, USA

26. Department of Neurology, University of Washington, Seattle, WA 98195, USA

27. Genome and Structural Bioinformatics Group, Institute of Life Science, Swansea University, Singleton Park, Swansea SA2 8PP, UK

28. Institute of Human Genetics, University Medical Center Leipzig, Leipzig 04103, Germany

29. Imagine Institute, INSERM UMR-1163, Laboratory Genetics and Embryology of Congenital Malformations, Paris Descartes University, Paris, France

30. West of Scotland Clinical Genetics Service, Queen Elizabeth University Hospital, Glasgow G51 4TF, UK

Funder

Newlife Foundation for Disabled Children

European Cooperation in Science and Technology

Eunice Kennedy Shriver National Institute of Child Health and Human Development

NIH

NINDS

Wellcome Trust

Publisher

Oxford University Press (OUP)

Subject

Clinical Neurology

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