{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,30]],"date-time":"2026-10-30T23:39:06Z","timestamp":1793403546601,"version":"4.5.0"},"reference-count":43,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2025,7,1]],"date-time":"2025-07-01T00:00:00Z","timestamp":1751328000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/100018231","name":"ASAP","doi-asserted-by":"publisher","award":["GP2"],"award-info":[{"award-number":["GP2"]}],"id":[{"id":"10.13039\/100018231","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["1K08NS131581"],"award-info":[{"award-number":["1K08NS131581"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["R25NS070695"],"award-info":[{"award-number":["R25NS070695"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[2025,9]]},"abstract":"<jats:sec><jats:title>Objective<\/jats:title><jats:p>A growing body of evidence indicates a strong genetic overlap between developmental and epileptic encephalopathies (DEEs) and movement disorders. De novo loss\u2010of\u2010function variants in <jats:italic>NUS1<\/jats:italic> have been recently identified in DEE cases. Herein, we report a large cohort of cases with pathogenic <jats:italic>NUS1<\/jats:italic> variants and describe their clinical presentation and the details of the associated epilepsy and movement disorders.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Cases with <jats:italic>NUS1<\/jats:italic>\u2010related disorders were identified through a multicentric international collaboration made possible by the GeneMatcher platform. Clinical data were acquired through retrospective case\u2010note review.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We identified 41 subjects carrying 38 different pathogenic or likely pathogenic heterozygous <jats:italic>NUS1<\/jats:italic> variants. The majority of cases displayed developmental delays and intellectual disability of variable severity. Epilepsy was present in 68.3% of cases (28\/41) with onset typically in early childhood. Strikingly, 87.8% of cases (36\/41) presented with movement disorders and for 13 of these cases the movement disorder was not accompanied by epilepsy. The phenomenology of the movement disorders was complex with myoclonus observed in 68.3% of cases (28\/41), either in isolation or in combination with dystonia, ataxia, and\/or parkinsonism. Seven cases that otherwise did not have prominent movement disorders had mild incoordination and intention tremor, suggestive of cerebellar dysfunction. There was no observed genotype\u2013phenotype correlation, suggesting that other genetic or acquired factors impact the clinical presentation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p>Heterozygous <jats:italic>NUS1<\/jats:italic> pathogenic variants cause a complex neurological disorder, variably featuring developmental and epileptic encephalopathies and a broad spectrum of movement disorders, which represent the major source of neurological disability for most cases. ANN NEUROL 2025;98:561\u2013572<\/jats:p><\/jats:sec>","DOI":"10.1002\/ana.27272","type":"journal-article","created":{"date-parts":[[2025,7,1]],"date-time":"2025-07-01T08:10:07Z","timestamp":1751357407000},"page":"561-572","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["The Spectrum of Neurologic Phenotypes Associated With <scp><i>NUS1<\/i><\/scp> Pathogenic Variants: A Comprehensive Case Series"],"prefix":"10.1002","volume":"98","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5674-3124","authenticated-orcid":false,"given":"Sarah M.","family":"Brooker","sequence":"first","affiliation":[{"name":"Department of Neurology Northwestern University Feinberg School of Medicine  Chicago IL"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Novelli","sequence":"additional","affiliation":[{"name":"Department of Human Neuroscience Sapienza University of Rome  Rome 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