{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T22:02:35Z","timestamp":1791928955636,"version":"4.3.4"},"reference-count":104,"publisher":"Oxford University Press (OUP)","issue":"5","license":[{"start":{"date-parts":[[2023,12,1]],"date-time":"2023-12-01T00:00:00Z","timestamp":1701388800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/501100009708","name":"Novo Nordisk Foundation","doi-asserted-by":"publisher","award":["NNF20SA0064340"],"award-info":[{"award-number":["NNF20SA0064340"]}],"id":[{"id":"10.13039\/501100009708","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["32200779"],"award-info":[{"award-number":["32200779"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["5U54OD030165"],"award-info":[{"award-number":["5U54OD030165"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012166","name":"National Key R & D Program of China","doi-asserted-by":"crossref","award":["2019YFA0801603"],"award-info":[{"award-number":["2019YFA0801603"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100012166","name":"National Key R & D Program of China","doi-asserted-by":"crossref","award":["32170951"],"award-info":[{"award-number":["32170951"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100012226","name":"Fundamental Research Funds for the Central Universities","doi-asserted-by":"publisher","award":["021414380533"],"award-info":[{"award-number":["021414380533"]}],"id":[{"id":"10.13039\/501100012226","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Special Fund for Science and Technology Innovation Strategy of Guangdong Province","award":["2021B0909050004"],"award-info":[{"award-number":["2021B0909050004"]}]},{"DOI":"10.13039\/501100011958","name":"Independent Research Fund Denmark","doi-asserted-by":"publisher","award":["3101-00386B"],"award-info":[{"award-number":["3101-00386B"]}],"id":[{"id":"10.13039\/501100011958","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,5,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>AMPA (\u03b1-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid) receptors (AMPARs) mediate fast excitatory neurotransmission in the brain. AMPARs form by homo- or heteromeric assembly of subunits encoded by the GRIA1\u2013GRIA4 genes, of which only GRIA3 is X-chromosomal. Increasing numbers of GRIA3 missense variants are reported in patients with neurodevelopmental disorders (NDD), but only a few have been examined functionally.<\/jats:p>\n               <jats:p>Here, we evaluated the impact on AMPAR function of one frameshift and 43 rare missense GRIA3 variants identified in patients with NDD by electrophysiological assays. Thirty-one variants alter receptor function and show loss-of-function or gain-of-function properties, whereas 13 appeared neutral.<\/jats:p>\n               <jats:p>We collected detailed clinical data from 25 patients (from 23 families) harbouring 17 of these variants. All patients had global developmental impairment, mostly moderate (9\/25) or severe (12\/25). Twelve patients had seizures, including focal motor (6\/12), unknown onset motor (4\/12), focal impaired awareness (1\/12), (atypical) absence (2\/12), myoclonic (5\/12) and generalized tonic-clonic (1\/12) or atonic (1\/12) seizures. The epilepsy syndrome was classified as developmental and epileptic encephalopathy in eight patients, developmental encephalopathy without seizures in 13 patients, and intellectual disability with epilepsy in four patients. Limb muscular hypotonia was reported in 13\/25, and hypertonia in 10\/25. Movement disorders were reported in 14\/25, with hyperekplexia or non-epileptic erratic myoclonus being the most prevalent feature (8\/25).<\/jats:p>\n               <jats:p>Correlating receptor functional phenotype with clinical features revealed clinical features for GRIA3-associated NDDs and distinct NDD phenotypes for loss-of-function and gain-of-function variants. Gain-of-function variants were associated with more severe outcomes: patients were younger at the time of seizure onset (median age: 1 month), hypertonic and more often had movement disorders, including hyperekplexia. Patients with loss-of-function variants were older at the time of seizure onset (median age: 16 months), hypotonic and had sleeping disturbances. Loss-of-function and gain-of-function variants were disease-causing in both sexes but affected males often carried de novo or hemizygous loss-of-function variants inherited from healthy mothers, whereas affected females had mostly de novo heterozygous gain-of-function variants.<\/jats:p>","DOI":"10.1093\/brain\/awad403","type":"journal-article","created":{"date-parts":[[2023,11,30]],"date-time":"2023-11-30T07:11:44Z","timestamp":1701328304000},"page":"1837-1855","source":"Crossref","is-referenced-by-count":35,"title":["Gain-of-function and loss-of-function variants in <i>GRIA3<\/i> lead to distinct neurodevelopmental phenotypes"],"prefix":"10.1093","volume":"147","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5763-5347","authenticated-orcid":false,"given":"Berardo","family":"Rinaldi","sequence":"first","affiliation":[{"name":"Medical Genetics Unit, Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico , Milan 20122 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4986-8006","authenticated-orcid":false,"given":"Allan","family":"Bayat","sequence":"additional","affiliation":[{"name":"Department of Drug Design and Pharmacology, University of Copenhagen , Copenhagen 2100 , Denmark"},{"name":"Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre , Dianalund 4293 , Denmark"},{"name":"Department of Regional Health Research, University of Southern Denmark , Odense 5230 Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linda G","family":"Zachariassen","sequence":"additional","affiliation":[{"name":"Department of Drug Design and Pharmacology, University of Copenhagen , Copenhagen 2100 , Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jia-Hui","family":"Sun","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Pharmaceutical Biotechnology, Model Animal Research Center, Department of Neurology, Nanjing Drum Tower Hospital, Medical School, Nanjing University , Nanjing 210032 , China"},{"name":"Zhejiang Key Laboratory of Organ Development and Regeneration, College of Life and Environmental Sciences, Hangzhou Normal University , Hangzhou 310030 , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu-Han","family":"Ge","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Pharmaceutical Biotechnology, Model Animal Research Center, Department of Neurology, Nanjing Drum Tower Hospital, Medical School, Nanjing University , Nanjing 210032 , China"},{"name":"Ministry of Education Key Laboratory of Model Animal for Disease Study, National Resource Center for Mutant Mice, Jiangsu Key Laboratory of Molecular Medicine, Medical School, Nanjing University , Nanjing 210032 , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dan","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Drug Design and Pharmacology, University of Copenhagen , Copenhagen 2100 , Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristine","family":"Bonde","sequence":"additional","affiliation":[{"name":"Department of Drug Design and Pharmacology, University of Copenhagen , Copenhagen 2100 , Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura H","family":"Madsen","sequence":"additional","affiliation":[{"name":"Department of Drug Design and Pharmacology, University of Copenhagen , Copenhagen 2100 , Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilham Abdimunim Ali","family":"Awad","sequence":"additional","affiliation":[{"name":"Department of Drug Design and Pharmacology, University of Copenhagen , Copenhagen 2100 , 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Medicine, Texas Children\u2019s Hospital , Houston, TX 77030 , USA"},{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine , Houston, TX 77030 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Krystal","family":"Sully","sequence":"additional","affiliation":[{"name":"Division of Neurology and Developmental Neurosciences, Department of Pediatrics, Baylor College of Medicine, Texas Children\u2019s Hospital , Houston, TX 77030 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chaya N","family":"Murali","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine , Houston, TX 77030 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lindsay C","family":"Burrage","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine , Houston, TX 77030 , 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France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Boris","family":"Keren","sequence":"additional","affiliation":[{"name":"Genetic Department, APHP, Sorbonne Universit\u00e9, Piti\u00e9-Salp\u00eatri\u00e8re Hospital , Paris 75013 , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2535-2198","authenticated-orcid":false,"given":"M\u00e9lanie","family":"Fradin","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale, H\u00f4pital Sud, CHU de Rennes , Rennes 35200 , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christele","family":"Dubourg","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique Mol\u00e9culaire et G\u00e9nomique, CHU de Rennes , Rennes 35200 , France"},{"name":"Universit\u00e9 de Rennes, CNRS, Institut de Genetique et Developpement de Rennes, UMR 6290 , Rennes 35200 , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Mercier","sequence":"additional","affiliation":[{"name":"Nantes Universit\u00e9, CHU Nantes, Service de G\u00e9n\u00e9tique M\u00e9dicale , Nantes 44000 , France"},{"name":"Nantes Universit\u00e9, CHU Nantes, CNRS, INSERM, l\u2019institut du thorax , Nantes 44000 , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Besnard","sequence":"additional","affiliation":[{"name":"Nantes Universit\u00e9, CHU Nantes, Service de G\u00e9n\u00e9tique M\u00e9dicale , Nantes 44000 , France"},{"name":"Nantes Universit\u00e9, CHU Nantes, CNRS, INSERM, l\u2019institut du thorax , Nantes 44000 , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benjamin","family":"Cogne","sequence":"additional","affiliation":[{"name":"Nantes Universit\u00e9, CHU Nantes, Service de G\u00e9n\u00e9tique M\u00e9dicale , Nantes 44000 , France"},{"name":"Nantes Universit\u00e9, CHU Nantes, CNRS, INSERM, l\u2019institut du thorax , Nantes 44000 , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wallid","family":"Deb","sequence":"additional","affiliation":[{"name":"Nantes Universit\u00e9, CHU Nantes, Service de G\u00e9n\u00e9tique M\u00e9dicale , Nantes 44000 , France"},{"name":"Nantes Universit\u00e9, CHU Nantes, CNRS, INSERM, l\u2019institut du thorax , Nantes 44000 , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clotilde","family":"Rivier","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Villefranche-sur-Sa\u00f4ne Hospital , Villefranche-sur-Sa\u00f4ne 69655 , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donatella","family":"Milani","sequence":"additional","affiliation":[{"name":"Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico , Milan 20122 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Francesca","family":"Bedeschi","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico , Milan 20122 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Di Napoli","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico , Milan 20122 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federico","family":"Grilli","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico , Milan 20122 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"Marchisio","sequence":"additional","affiliation":[{"name":"Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico, Pediatria Pneumoinfettivologia , Milan 20122 , Italy"},{"name":"University of Milan , Milan 20122 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suzanna","family":"Koudijs","sequence":"additional","affiliation":[{"name":"Department of Neurology, ENCORE, Erasmus Medical Center-Sophia Children\u2019s Hospital , Rotterdam 3015 , The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danielle","family":"Veenma","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, ENCORE, Erasmus Medical Center-Sophia Children\u2019s Hospital , Rotterdam 3015 , The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emanuela","family":"Argilli","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University of California , San Francisco, CA 94143 , USA"},{"name":"Department of Neurology, Weill Institute for Neurosciences, University of California , San Francisco, CA 94143 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sally 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92618 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erin","family":"Thorpe","sequence":"additional","affiliation":[{"name":"Illumina Inc , San Diego, CA 92122 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Hecher","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University Medical Center Hamburg-Eppendorf , Hamburg 20215 , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessika","family":"Johannsen","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University Medical Center Hamburg-Eppendorf , Hamburg 20215 , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonas","family":"Denecke","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University Medical Center Hamburg-Eppendorf , Hamburg 20215 , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vanda","family":"McNiven","sequence":"additional","affiliation":[{"name":"Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto , Toronto, ON M5G 1E8 , Canada"},{"name":"Fred A Litwin Family Centre in Genetic Medicine, University Health Network and Mount Sinai Hospital , Toronto, ON M5G 2C4 , Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Szuto","sequence":"additional","affiliation":[{"name":"Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto , Toronto, ON M5G 1E8 , Canada"},{"name":"Department of Paediatrics, Hospital for Sick Children and University of Toronto , Toronto, ON M5G 1E8 , Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma","family":"Wakeling","sequence":"additional","affiliation":[{"name":"North East Thames Regional Genetics Service, Great 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