AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
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Published:2019-07-12
Issue:1
Volume:10
Page:
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ISSN:2041-1723
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Container-title:Nature Communications
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language:en
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Short-container-title:Nat Commun
Author:
Salpietro Vincenzo, , Dixon Christine L., Guo Hui, Bello Oscar D.ORCID, Vandrovcova Jana, Efthymiou StephanieORCID, Maroofian Reza, Heimer Gali, Burglen LydieORCID, Valence StephanieORCID, Torti ErinORCID, Hacke Moritz, Rankin Julia, Tariq Huma, Colin Estelle, Procaccio Vincent, Striano Pasquale, Mankad Kshitij, Lieb AndreasORCID, Chen Sharon, Pisani Laura, Bettencourt ConceicaoORCID, Männikkö RoopeORCID, Manole Andreea, Brusco AlfredoORCID, Grosso Enrico, Ferrero Giovanni Battista, Armstrong-Moron Judith, Gueden Sophie, Bar-Yosef Omer, Tzadok Michal, Monaghan Kristin G., Santiago-Sim Teresa, Person Richard E., Cho Megan T., Willaert Rebecca, Yoo Yongjin, Chae Jong-Hee, Quan Yingting, Wu Huidan, Wang Tianyun, Bernier Raphael A., Xia Kun, Blesson Alyssa, Jain Mahim, Motazacker Mohammad M., Jaeger Bregje, Schneider Amy L.ORCID, Boysen Katja, Muir Alison M.ORCID, Myers Candace T., Gavrilova Ralitza H., Gunderson Lauren, Schultz-Rogers LauraORCID, Klee Eric W., Dyment David, Osmond Matthew, Parellada Mara, Llorente Cloe, Gonzalez-Peñas Javier, Carracedo Angel, Van Haeringen Arie, Ruivenkamp Claudia, Nava Caroline, Heron Delphine, Nardello Rosaria, Iacomino Michele, Minetti Carlo, Skabar Aldo, Fabretto Antonella, Raspall-Chaure Miquel, Chez Michael, Tsai Anne, Fassi Emily, Shinawi Marwan, Constantino John N., De Zorzi Rita, Fortuna SaraORCID, Kok Fernando, Keren Boris, Bonneau Dominique, Choi MurimORCID, Benzeev Bruria, Zara Federico, Mefford Heather C., Scheffer Ingrid E., Clayton-Smith Jill, Macaya Alfons, Rothman James E., Eichler Evan E.ORCID, Kullmann Dimitri M.ORCID, Houlden HenryORCID
Publisher
Springer Science and Business Media LLC
Subject
General Physics and Astronomy,General Biochemistry, Genetics and Molecular Biology,General Chemistry
Reference65 articles.
1. Heyne, H. O. et al. De-novo variants in neurodevelopmental disorders with epilepsy. Nat. Genet. 50, 1048–1053 (2018). 2. Chen, S. et al. An interactome perturbation framework prioritizes damaging missense mutations for developmental disorders. Nat. Genet. 50, 1032–1040 (2018). 3. Deciphering Developmental Disorders Study. Prevalence and architecture of de-novo mutations in developmental disorders. Nature 542, 433–438 (2017). 4. Lombardi, L. M., Baker, S. A. & Zoghbi, H. Y. MECP2 disorders: from the clinic to mice and back. J. Clin. Invest. 125, 2914–2923 (2015). 5. Scheffer, I. E. et al. ILAE classification of the epilepsies: position paper of the ILAE Commission for Classification and Terminology. Epilepsia 58, 512–521 (2017).
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