{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,16]],"date-time":"2026-02-16T18:36:07Z","timestamp":1771266967491,"version":"3.50.1"},"reference-count":22,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2025,8,23]],"date-time":"2025-08-23T00:00:00Z","timestamp":1755907200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100002108","name":"Friedreich's Ataxia Research Alliance","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100002108","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100013301","name":"Parkinson's Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100013301","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002283","name":"Alzheimer\u2019s Research UK","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002283","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100018889","name":"Multiple System Atrophy Coalition","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100018889","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100012256","name":"Cerebral Palsy Alliance Research Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100012256","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000833","name":"Rosetrees Trust","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000833","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100011963","name":"European Academy of Neurology","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100011963","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100013128","name":"Multiple System Atrophy Trust","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100013128","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100019709","name":"Dolby Family Ventures","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100019709","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":[[2025,10]]},"abstract":"<jats:p>\n                    <jats:italic>SCN3B<\/jats:italic>\n                    encodes the \u03b23 auxiliary subunit, essential for voltage\u2010gated Na\n                    <jats:sup>+<\/jats:sup>\n                    (Nav) channel trafficking and gating. Although\n                    <jats:italic>SCN3B<\/jats:italic>\n                    has been associated with cardiac disorders, a link with neurodevelopmental disorders (NDD) has not been established. Using a genotype\u2010first approach, we identified homozygous truncating variants (c.281G&gt;A\u2010\u03b23\n                    <jats:sup>W94*<\/jats:sup>\n                    , c.584\u2009+\u20091G&gt;A\u2010\u03b23\n                    <jats:sup>S196*<\/jats:sup>\n                    ) in 2 consanguineous Pakistani families, leading to global developmental delay, intellectual disability and autism, with severe cognitive impairment, ataxia, and seizures in the case of \u03b23\n                    <jats:sup>W94*<\/jats:sup>\n                    . Electrophysiological analysis revealed subtype\u2010specific gating alterations on multiple brain Nav channel subtypes. This is the first report linking\n                    <jats:italic>SCN3B<\/jats:italic>\n                    mutations to NDD, expanding our understanding of Nav channelopathies. ANN NEUROL 2025;98:864\u2013870\n                  <\/jats:p>","DOI":"10.1002\/ana.78014","type":"journal-article","created":{"date-parts":[[2025,8,23]],"date-time":"2025-08-23T07:13:59Z","timestamp":1755933239000},"page":"864-870","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Biallelic Truncating Variants in\n                    <scp>\n                      <i>SCN3B<\/i>\n                    <\/scp>\n                    Encoding Nav Channel Subunit \u03b23 Lead to Neurodevelopmental Phenotype with and without Epilepsy and Ataxia"],"prefix":"10.1002","volume":"98","author":[{"ORCID":"https:\/\/orcid.org\/0009-0001-2080-5901","authenticated-orcid":false,"given":"Nathan","family":"Routledge","sequence":"first","affiliation":[{"name":"Department of Neuromuscular Disorders, Queen Square Institute of Neurology University College London  London United 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