{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,22]],"date-time":"2026-06-22T14:20:57Z","timestamp":1782138057714,"version":"3.54.5"},"reference-count":12,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2021,6,21]],"date-time":"2021-06-21T00:00:00Z","timestamp":1624233600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Develop Med Child Neuro"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:sec><jats:label\/><jats:p>Aicardi\u2010Gouti\u00e8res syndrome (AGS) is a rare genetic neuroinflammatory disorder caused by abnormal upregulation of type 1 interferon signalling. Opsoclonus\u2010myoclonus syndrome is a rare autoimmune phenotype demonstrating a disturbance in the humoral immune response mostly seen in the context of paraneoplastic or postinfectious states, although its pathophysiology is incompletely understood. We report the first three children described with AGS demonstrating transient opsoclonus and myoclonus after irritability and\/or developmental regression, suggesting a pathological association. We describe the presentation, clinical features, progress, cerebrospinal fluid (CSF) inflammatory markers, electroencephalogram (EEG), and magnetic resonance imaging (MRI) findings in these children. Two patients had developmental regression but demonstrated a positive response to JAK1\/2 inhibition clinically and on serial examination of CSF inflammatory markers. These findings suggest that AGS should be considered in children presenting with opsoclonus\u2010myoclonus, and that the association between AGS and opsoclonus\u2010myoclonus further supports the role of immune dysregulation as causal in the rare neurological phenomenon opsoclonus and myoclonus.<\/jats:p><\/jats:sec><jats:sec><jats:label\/><jats:p>\n<jats:boxed-text content-type=\"box\" position=\"anchor\"><jats:caption><jats:title>What this paper adds<\/jats:title><\/jats:caption><jats:p>\n<jats:list list-type=\"bullet\">\n\n<jats:list-item><jats:p>There is a phenotypic association between opsoclonus\u2010myoclonus syndrome and Aicardi\u2010Gouti\u00e8res syndrome.<\/jats:p><\/jats:list-item>\n\n<jats:list-item><jats:p>There is clinical evidence of immune dysregulation in the pathogenesis of opsoclonus and myoclonus.<\/jats:p><\/jats:list-item>\n<\/jats:list>\n<\/jats:p><\/jats:boxed-text>\n<\/jats:p><\/jats:sec>","DOI":"10.1111\/dmcn.14969","type":"journal-article","created":{"date-parts":[[2021,6,22]],"date-time":"2021-06-22T04:59:23Z","timestamp":1624337963000},"page":"1483-1486","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Opsoclonus\u2010myoclonus in Aicardi\u2010Gouti\u00e8res syndrome"],"prefix":"10.1111","volume":"63","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9987-3236","authenticated-orcid":false,"given":"Salam","family":"Alburaiky","sequence":"first","affiliation":[{"name":"Genetic Health Service New Zealand (Northern Hub) Auckland New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2495-1826","authenticated-orcid":false,"given":"Russell C","family":"Dale","sequence":"additional","affiliation":[{"name":"Kids Neuroscience Centre Children\u2019s Hospital at Westmead Faculty of Medicine and Health University of Sydney Sydney Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7211-7564","authenticated-orcid":false,"given":"Yanick J","family":"Crow","sequence":"additional","affiliation":[{"name":"Centre for Genomic and Experimental Medicine MRC Institute of Genetics and Cancer University of Edinburgh Edinburgh UK"},{"name":"Laboratory of Neurogenetics and Neuroinflammation Universit\u00e9 de Paris Institut Imagine Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hannah F","family":"Jones","sequence":"additional","affiliation":[{"name":"Starship Paediatric Neurology Auckland New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Evangeline","family":"Wassmer","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology Birmingham Children's Hospital Birmingham 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