Journal article

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

Vincenzo Salpietro, Christine L Dixon, Hui Guo, Oscar D Bello, Jana Vandrovcova, Stephanie Efthymiou, Reza Maroofian, Gali Heimer, Lydie Burglen, Stephanie Valence, Erin Torti, Moritz Hacke, Julia Rankin, Huma Tariq, Estelle Colin, Vincent Procaccio, Pasquale Striano, Kshitij Mankad, Andreas Lieb, Sharon Chen Show all

Nature Communications | NATURE PUBLISHING GROUP | Published : 2019


Awarded by Wellcome Trust

Awarded by European Community

Awarded by European Union

Awarded by National Natural Science Foundation of China

Awarded by US National Institutes of Health (NIH grant)

Awarded by CINECA Awards


Funding Acknowledgements

We gratefully acknowledge all the families for their enthusiastic participation to this study. Further acknowledgements can be found in Supplementary Note 29. This study was supported by the Wellcome Trust (WT093205MA and WT104033AIA), Medical Research Council (H.H. and D.M.K.), European Community's Seventh Framework Programme (FP7/2007-2013, under grant agreement No. 2012-305121 to H.H.), Muscular Dystrophy Association (MDA), Muscular Dystrophy UK, The MSA Trust, Ataxia UK, The Sparkes Children's Medical Research Charity, The Great Ormond Street Hospital Charity, Rosetrees Trust, Brain Research UK, The UK HSP Society, The European Union's Horizon 2020 research and innovation programme Solve-RD project (No 779257), The Pakistan Council (Scholarship to HT), The National Natural Science Foundation of China (31671114, 81871079, 81330027, and 81525007 to H.G. and K.X.) and the US National Institutes of Health (NIH grant R01MH101221 to E.E.E). E.E.E. is an investigator of the Howard Hughes Medical Institute. We acknowledge the CINECA Awards N. HP10BTJPER, 2017 (to SF), for the availability of high performance computing resources and support. We are also supported by the National Institute for Health Research (NIHR) University College London Hospitals (UCLH) Biomedical Research Centre (BRC). We are grateful to M. Farrant and S. Cull-Candy for helpful suggestions and the stargazin plasmid. We also acknowledge the University of Washington Center for Mendelian Genomics.