{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T16:49:06Z","timestamp":1791823746322,"version":"4.3.4"},"reference-count":32,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2020,5,5]],"date-time":"2020-05-05T00:00:00Z","timestamp":1588636800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Eunice Kennedy Shriver National Institute of Child Health & Human Development","award":["R01HD082373"],"award-info":[{"award-number":["R01HD082373"]}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurologic Disorders and Stroke","doi-asserted-by":"crossref","award":["R01NS036654"],"award-info":[{"award-number":["R01NS036654"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurologic Disorders and Stroke","doi-asserted-by":"crossref","award":["R01NS065371"],"award-info":[{"award-number":["R01NS065371"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurologic Disorders and Stroke","doi-asserted-by":"crossref","award":["R24NS092989"],"award-info":[{"award-number":["R24NS092989"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2020,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Hemizygous mutations in\n                      <jats:italic>GRIA3<\/jats:italic>\n                      encoding the GluA3 subunit of the amino\u20103\u2010hydroxy\u20105\u2010methyl\u20104\u2010isoxazolepropionic acid receptor are known to be associated with neurodevelopmental disorders, including intellectual disability, hypotonia, an autism spectrum disorder, sleep disturbances, and epilepsy in males.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>\n                      To describe a new and consistent phenotype in 4 affected male patients associated with an undescribed deleterious variant in\n                      <jats:italic>GRIA3<\/jats:italic>\n                      .\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      We evaluated a large French family in which segregate a singular phenotype according to an apparent X\u2010linked mode of inheritance. Molecular analyses using next generation sequencing and in vitro functional studies using 2\u2010electrode voltage clamp recordings on\n                      <jats:italic>Xenopus laevis<\/jats:italic>\n                      oocytes and a \u03b2\u2010lactamase reporter assay in transfected human embryonic kidney (HEK293) cells were performed.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      In addition to mild intellectual disability and dysarthria, affected patients presented a tightly consistent early\u2010onset movement disorder combining an exaggerated startle reflex with generalized chorea and multifocal myoclonus. The unreported\n                      <jats:italic>GRIA3<\/jats:italic>\n                      missense variant c.2477G\u2009&gt;\u2009A; p.(Gly826Asp) affecting the fourth transmembrane domain of the protein was identified in index patients and their unaffected mothers. Functional studies revealed that variant receptors show decreased current response evoked by agonist (ie, kainic acid and glutamate) and reduced expression on the cell surface in favor of pathogenicity by a loss\u2010of\u2010function mechanism.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      Taken together, our results suggest that apart from known\n                      <jats:italic>GRIA3<\/jats:italic>\n                      \u2010related disorders, an undescribed mutation\u2010specific singular movement disorder does exist. We thus advocate considering\n                      <jats:italic>GRIA3<\/jats:italic>\n                      mutations in the differential diagnosis of hyperekplexia and generalized chorea with myoclonus. \u00a9 2020 International Parkinson and Movement Disorder Society\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mds.28058","type":"journal-article","created":{"date-parts":[[2020,5,5]],"date-time":"2020-05-05T15:56:25Z","timestamp":1588694185000},"page":"1224-1232","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":23,"title":["The\n                    <scp>\n                      <i>GRIA3<\/i>\n                    <\/scp>\n                    c.\n                    <scp>2477G<\/scp>\n                    &gt;\u2009A Variant Causes an Exaggerated Startle Reflex, Chorea, and Multifocal Myoclonus"],"prefix":"10.1002","volume":"35","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5244-5325","authenticated-orcid":false,"given":"Juliette","family":"Piard","sequence":"first","affiliation":[{"name":"Centre de G\u00e9n\u00e9tique Humaine Universit\u00e9 de Franche\u2010Comt\u00e9, CHU  Besan\u00e7on France"},{"name":"Unit\u00e9 de recherche en neurosciences int\u00e9gratives et cognitives EA481 Universit\u00e9 de Franche\u2010Comt\u00e9  Besan\u00e7on France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0769-0289","authenticated-orcid":false,"given":"Matthieu","family":"B\u00e9reau","sequence":"additional","affiliation":[{"name":"Unit\u00e9 de recherche en neurosciences int\u00e9gratives et cognitives EA481 Universit\u00e9 de Franche\u2010Comt\u00e9  Besan\u00e7on France"},{"name":"Service de Neurologie, CHU  Besan\u00e7on France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2456-4057","authenticated-orcid":false,"given":"Wenshu","family":"XiangWei","sequence":"additional","affiliation":[{"name":"Department of Pharmacology and Chemical Biology Emory University School of Medicine  Atlanta Georgia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4427-5765","authenticated-orcid":false,"given":"Thomas","family":"Wirth","sequence":"additional","affiliation":[{"name":"D\u00e9partement de Neurologie, H\u00f4pital de Hautepierre H\u00f4pitaux Universitaires de Strasbourg  Strasbourg France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel","family":"Amsallem","sequence":"additional","affiliation":[{"name":"Service de Neurop\u00e9diatrie, CHU  Besan\u00e7on 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