ArticleNature communications2019
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
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In one paragraph
Article in Nature communications, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 159 papers, 1 of them a synthesis that pooled it.
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159citing papers in PubMed, 1 pooled it
13.3field-weighted citation impact, top 1% of its field
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Who cites it
159 citing papers in PubMed, 1 synthesis or guideline pooled it, 242 citations in OpenAlex.
- Genetic Neonatal-Onset Epilepsies and Developmental/Epileptic Encephalopathies with Movement Disorders: A Systematic Review.International journal of molecular sciences · 2021Pooled it
- Pre-activation and gating pathway of AMPA receptors revealed by full and partial agonists.Nature structural & molecular biology · 2026Article
- Targeting Spinal Dorsal Horn Sensitisation in Chronic Pain: Mechanisms and Translational Strategies.Neuroscience bulletin · 2026Review
- Tuning of AMPA receptor activation by inhibitory auxiliary subunits and epilepsy-associated disease mutations.Nature communications · 2026Article
- The AMPA receptor life cycle: assembly, regulation and synaptic diversity.Nature reviews. Neuroscience · 2026Review
- AMPAR Subunit Gene Expression Marks a Synaptic Transcriptional State in Lower-Grade Glioma.Brain sciences · 2026Article
- Adipose stem cells derived extracellular vesicles alleviate retinal excitotoxicity via miR-23a-5p/PLCD1/PKCA/GluA2 axis: a potential therapeutic strategy.Stem cell research & therapy · 2026Article
- Article
- Data-Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies.Movement disorders clinical practice · 2026Review
- Subgroup-Specific Associations of GRIA Genes Encoding AMPA Glutamate Receptor Subunits with Patient Survival in Medulloblastoma.Neuromolecular medicine · 2026Article
- In Vivo CRISPR Screening Identifies the Glutamate Receptor GRIA2 as Promoting Peritoneal Metastasis of Gastric Cancer via Calcium-Dependent β-Catenin Activation.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- The anti-NMDAR1 antibodies and IL-17 signaling pathway shape NMDAR encephalitis.Molecular psychiatry · 2026Article
- Alternative splicing-triggered mRNA decay informs splice-switching targets for neurodevelopmental disorders.The Journal of clinical investigation · 2026Article
- Paradoxical Expression of Ionotropic Glutamate Receptors in Leucocytes.Clinical reviews in allergy & immunology · 2026Article
- Global hotspots and trends in AMPA receptor research (2000-2025): a bibliometric and visualization analysis.Naunyn-Schmiedeberg's archives of pharmacology · 2026Article
- From Atoms to Neuronal Spikes: A Multiscale Simulation Framework.Journal of chemical theory and computation · 2026Review
- A De Novo Arg649Trp Variant in GluA2 Impairs Its Assembly With GluA1: Associated With Epilepsy and Neurodevelopmental Disorders.Human mutation · 2026Article
- Neuron-specific WDR5 epigenetically upregulates ARID5B to impair GABAergic synaptic transmission and promotes epileptogenesis.Theranostics · 2026Article
- Rescuing Neurodevelopmental Deficits in AMPA Receptor Gain-of-Function Mutant.bioRxiv : the preprint server for biology · 2025Article
- SNX6-mediated subunit-specific secretory trafficking of AMPA receptors regulates synaptic function and plasticity.Communications biology · 2025Article
99 more citing papers are in PubMed but not listed here.
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Authors and funding
93 authors at 20 institutions in 35 countries.
Vincenzo SalpietroDepartment of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
Christine L DixonDepartment of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
Hui GuoDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, 98195, USA.
Oscar D BelloDepartment of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.ORCID http://orcid.org/0000-0001-5701-8365
Jana VandrovcovaDepartment of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
Stephanie EfthymiouDepartment of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.ORCID http://orcid.org/0000-0003-4900-9877
Reza MaroofianDepartment of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
Gali HeimerPediatric Neurology Unit, Safra Children's Hospital, Sheba Medical Center and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, 526121, Ramat Gan, Israel.
Lydie BurglenCentre de Référence des Malformations et Maladies Congénitales du Cervelet, Département de Génétique et Embryologie Médicale, APHP, Hôpital Trousseau, 75012, Paris, France.ORCID http://orcid.org/0000-0002-1119-6809
Stephanie ValenceCentre de Référence des Malformations et Maladies Congénitales du Cervelet, Service de Neurologie Pédiatrique, APHP, Hôpital Trousseau, 75012, Paris, France.ORCID http://orcid.org/0000-0003-4530-4537
Erin TortiGeneDx, Gaithersburg, MD, 20877, USA.ORCID http://orcid.org/0000-0001-5790-1051
Moritz HackeBiochemistry Center, Heidelberg University, D-69120, Heidelberg, Germany.
Julia RankinRoyal Devon and Exeter NHS Foundation Trust, Exeter, EX1 2ED, UK.
Huma TariqDepartment of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
Estelle ColinDepartment of Biochemistry and Genetics, University Hospital, 49933, Angers, France.
Vincent ProcaccioDepartment of Biochemistry and Genetics, University Hospital, 49933, Angers, France.
Pasquale StrianoPediatric Neurology and Muscular Diseases Unit, IRCCS Istituto "Giannina Gaslini", 16147, Genoa, Italy.
Kshitij MankadGreat Ormond Street Hospital for Children, London, WC1N 3JH, UK.
Andreas LiebDepartment of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.ORCID http://orcid.org/0000-0001-9567-649X
Sharon ChenDivision of Medical Genetics, Northwell Health/Hofstra University SOM, New York, 11020, USA.
Laura PisaniDivision of Medical Genetics, Northwell Health/Hofstra University SOM, New York, 11020, USA.
Conceicao BettencourtDepartment of Clinical and Movement Neurosciences and Queen Square Brain Bank for Neurological Disorders, UCL Queen Square Institute of Neurology, London, WC1N 1PJ, UK.ORCID http://orcid.org/0000-0001-9090-7690
Roope MännikköDepartment of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.ORCID http://orcid.org/0000-0002-8727-9184
Andreea ManoleDepartment of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
Alfredo BruscoDepartment of Medical Sciences, Medical Genetics Unit, University of Torino, 10126, Torino, Italy.ORCID http://orcid.org/0000-0002-8318-7231
Enrico GrossoDepartment of Medical Sciences, Medical Genetics Unit, University of Torino, 10126, Torino, Italy.
Giovanni Battista FerreroDepartment of Public Health and Pediatrics, University of Torino, 10126, Torino, Italy.
Judith Armstrong-MoronUnit of Medical and Molecular Genetics, University Hospital Sant Joan de Deu Barcelona, 08950, Barcelona, Spain.
Sophie GuedenUnit of Neuropediatrics, University Hospital, Angers Cedex, 49933, France.
Omer Bar-YosefPediatric Neurology Unit, Safra Children's Hospital, Sheba Medical Center and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, 526121, Ramat Gan, Israel.
Michal TzadokPediatric Neurology Unit, Safra Children's Hospital, Sheba Medical Center and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, 526121, Ramat Gan, Israel.
Kristin G MonaghanGeneDx, Gaithersburg, MD, 20877, USA.
Teresa Santiago-SimGeneDx, Gaithersburg, MD, 20877, USA.
Richard E PersonGeneDx, Gaithersburg, MD, 20877, USA.
Megan T ChoGeneDx, Gaithersburg, MD, 20877, USA.
Rebecca WillaertGeneDx, Gaithersburg, MD, 20877, USA.
Yongjin YooDepartment of Biomedical Sciences, Seoul National University, Seoul, 03080, South Korea.
Jong-Hee ChaeDepartment of Pediatrics, Seoul National University, Seoul, 03080, South Korea.
Yingting QuanCenter for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, 410083, Hunan, China.
Huidan WuCenter for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, 410083, Hunan, China.
Tianyun WangDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, 98195, USA.
Raphael A BernierDepartment of Psychiatry, University of Washington, Seattle, WA, 98195, USA.
Kun XiaCenter for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, 410083, Hunan, China.
Alyssa BlessonCenter for Autism and Related Disorders, Kennedy Krieger Institute, Baltimore, Maryland, 21211, USA.
Mahim JainCenter for Autism and Related Disorders, Kennedy Krieger Institute, Baltimore, Maryland, 21211, USA.
Mohammad M MotazackerDepartment of Clinical Genetics, University of Amsterdam, Meibergdreef 9, 1105, Amsterdam, Netherlands.
Bregje JaegerDepartment of Pediatric Neurology, Amsterdam UMC, 1105, Amsterdam, Netherlands.
Amy L SchneiderEpilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Victoria, 3084, Australia.ORCID http://orcid.org/0000-0001-5260-7187
Katja BoysenEpilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Victoria, 3084, Australia.
Alison M MuirDepartment of Pediatrics, University of Washington, Seattle, WA, 98195, USA.ORCID http://orcid.org/0000-0002-9420-085X
Candace T MyersDepartment of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA, 98195, USA.
Ralitza H GavrilovaDepartment of Clinical Genomics, Mayo Clinic, Rochester, 55902, MN, USA.
Lauren GundersonDepartment of Clinical Genomics, Mayo Clinic, Rochester, 55902, MN, USA.
Laura Schultz-RogersDepartment of Clinical Genomics, Mayo Clinic, Rochester, 55902, MN, USA.ORCID http://orcid.org/0000-0002-7222-9985
Eric W KleeDepartment of Clinical Genomics, Mayo Clinic, Rochester, 55902, MN, USA.
David DymentChildren's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, K1H 8L1, Canada.
Matthew OsmondChildren's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, K1H 8L1, Canada.
Mara ParelladaChild and Adolescent Psychiatry Department, Hospital General Universitario Gregorio Marañón, School of Medicine, Universidad Complutense, IiSGM, CIBERSAM, 28007, Madrid, Spain.
Cloe LlorenteInstitute of Psychiatry and Mental Health, Hospital General Universitario Gregorio Maranon, Universidad Complutense, CIBERSAM, 28007, Madrid, Spain.
Javier Gonzalez-PeñasHospital Gregorio Maranon, IiSGM, School of Medicine, Calle Dr Esquerdo, 46, 28007, Madrid, Spain.
Angel CarracedoGrupo de Medicina Xenómica, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), CIMUS, Universidade de Santiago de Compostela, 15782, Santiago de Compostela, Spain.
Arie Van HaeringenDepartment of Clinical Genetics, Leiden University Medical Center, 2333 ZA, Leiden, Netherlands.
Claudia RuivenkampDepartment of Clinical Genetics, Leiden University Medical Center, 2333 ZA, Leiden, Netherlands.
Caroline NavaDepartment of Genetics, Assistance Publique - Hôpitaux de Paris, University Hôpital Pitié-Salpêtrière, 75013, Paris, France.
Delphine HeronDepartment of Genetics, Assistance Publique - Hôpitaux de Paris, University Hôpital Pitié-Salpêtrière, 75013, Paris, France.
Rosaria NardelloDepartment of Health Promotion,Mother and Child Care, Internal Medicine and Medical Specialities "G. D'Alessandro", University of Palermo, 90133, Palermo, Italy.
Michele IacominoLaboratory of Neurogenetics and Neuroscience, IRCCS Istituto "Giannina Gaslini", 16147, Genova, Italy.
Carlo MinettiPediatric Neurology and Muscular Diseases Unit, IRCCS Istituto "Giannina Gaslini", 16147, Genoa, Italy.
Aldo SkabarInstitute for Maternal and Child Health, IRCCS "Burlo Garofolo", University of Trieste, 34134, Trieste, Italy.
Antonella FabrettoInstitute for Maternal and Child Health, IRCCS "Burlo Garofolo", University of Trieste, 34134, Trieste, Italy.
SYNAPS Study Group
Miquel Raspall-ChaureDepartment of Pediatric Neurology, University Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, 08035, Barcelona, Spain.
Michael ChezNeuroscience Medical Group, 1625 Stockton Boulevard, Suite 104, Sacramento, CA, 95816, USA.
Anne TsaiDepartment of Genetics and Inherited Metabolic diseases, Children's Hospital Colorado, Aurora, CO, 80045, USA.
Emily FassiDepartment of Pediatrics, Washington University School of Medicine, St. Louis, MO, 63110, USA.
Marwan ShinawiDepartment of Pediatrics, Washington University School of Medicine, St. Louis, MO, 63110, USA.
John N ConstantinoWilliam Greenleaf Eliot Division of Child & Adolescent Psychiatry, Department of Psychiatry, Washington University School of Medicine, St. Louis, MO, 63110, USA.
Rita De ZorziDepartment of Chemical and Pharmaceutical Sciences, University of Trieste, 34134, Trieste, Italy.
Sara FortunaDepartment of Chemical and Pharmaceutical Sciences, University of Trieste, 34134, Trieste, Italy.ORCID http://orcid.org/0000-0002-8059-6064
Fernando KokNeurogenetics Unit, Department of Neurology, University of Sao Paulo, Sao Paulo, 01308-000, Brazil.
Boris KerenDepartment of Genetics, Assistance Publique - Hôpitaux de Paris, University Hôpital Pitié-Salpêtrière, 75013, Paris, France.
Dominique BonneauDepartment of Biochemistry and Genetics, University Hospital, 49933, Angers, France.
Murim ChoiDepartment of Biomedical Sciences, Seoul National University, Seoul, 03080, South Korea.ORCID http://orcid.org/0000-0002-9195-1455
Bruria BenzeevPediatric Neurology Unit, Safra Children's Hospital, Sheba Medical Center and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, 526121, Ramat Gan, Israel.
Federico ZaraLaboratory of Neurogenetics and Neuroscience, IRCCS Istituto "Giannina Gaslini", 16147, Genova, Italy.
Heather C MeffordDepartment of Pediatrics, University of Washington, Seattle, WA, 98195, USA.
Ingrid E SchefferEpilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Victoria, 3084, Australia.
Jill Clayton-SmithCentre for Genomic Medicine, Manchester Academic Health Sciences Centre, Central Manchester University Hospitals NHS Foundation Trust, Lancashire, M13 9WL, UK.
Alfons MacayaDepartment of Pediatric Neurology, University Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, 08035, Barcelona, Spain.
James E RothmanDepartment of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
Evan E EichlerDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, 98195, USA.ORCID http://orcid.org/0000-0002-8246-4014
Dimitri M KullmannDepartment of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK. d.kullmann@ucl.ac.uk.ORCID http://orcid.org/0000-0001-6696-3545
Henry HouldenDepartment of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK. h.houlden@ucl.ac.uk.ORCID http://orcid.org/0000-0002-2866-7777
National Hospital for Neurology and Neurosurgery · GBIstituto Giannina Gaslini · ITUniversity of Messina · ITUniversitat Autònoma de Barcelona · ESCentral South University · CNMedical University of Sofia · BGUniversity of Lagos · NGUniversity of Trieste · ITCentre National de la Recherche Scientifique · FRLeiden University Medical Center · NLMayo Clinic in Florida · USTel Aviv University · ILThe University of Melbourne · AUUniversity of Washington · USAga Khan University Hospital · PKHospital General Universitario Gregorio Marañón · ESInnsbruck Medical University · ATItalian Institute of Technology · ITNational Institute of Neurology Mongi-Ben Hamida · TNSeoul National University · KR
Funding
Sporadic Mutations and Autism Spectrum DisordersR01MH101221 · NIMH · UNIVERSITY OF WASHINGTON · PI EICHLER, EVAN · 2013 to 2025
$9.2MIntellectual and Developmental Disabilities Research CenterU54HD083091 · NICHD · UNIVERSITY OF WASHINGTON · PI MARAVILLA, KENNETH R · 2014 to 2019
$7.9MA Genomic Approach to EpilepsyR01NS069605 · NINDS · UNIVERSITY OF WASHINGTON · PI MEFFORD, HEATHER C. · 2010 to 2019
$4.9MMedical Research Council G0200373Medical Research Council G0400136Medical Research Council G0400627Medical Research Council G0600368Medical Research Council G0601440Medical Research Council G0801316Medical Research Council G0802760Medical Research Council G0900613Medical Research Council G1001253Medical Research Council G108/638Medical Research Council G116/147Medical Research Council G9805989Medical Research Council MR/L01095X/1Medical Research Council MR/S006753/1Medical Research Council MR/S01165X/1NICHD NIH HHS U54 HD083091NIMH NIH HHS R01 MH101221NINDS NIH HHS R01 NS069605The Dunhill Medical Trust R605/0717Wellcome Trust 209807/Z/17/ZWellcome Trust 212285/Z/18/Z
Abstract
AMPA receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations of GluA1-4 subunits encoded by GRIA1-4 genes. GluA2 has an especially important role because, following post-transcriptional editing at the Q607 site, it renders heteromultimeric AMPARs Ca
Indexed as
AdolescentAdultBrainChildChild, PreschoolCohort StudiesFemaleHeterozygoteHumansInfantIntellectual DisabilityLoss of Function MutationMagnetic Resonance ImagingMaleNeurodevelopmental DisordersReceptors, AMPAglutamate receptor ionotropic, AMPA 2Receptors, AMPA
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