{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T10:59:44Z","timestamp":1791197984881,"version":"4.1.0"},"reference-count":28,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T00:00:00Z","timestamp":1789948800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T00:00:00Z","timestamp":1789948800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ann Clin Transl Neurol"],"published-print":{"date-parts":[[2026,10]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Variants in\n                    <jats:italic>KCNA1<\/jats:italic>\n                    , encoding the Kv1.1 potassium channel, cause neurological disorders including episodic ataxia and developmental and epileptic encephalopathy. We identified a novel\n                    <jats:italic>KCNA1<\/jats:italic>\n                    variant (A401T) in a 16\u2010year\u2010old patient with autism spectrum disorder, borderline intellectual disability, and tremor, without episodic ataxia or epilepsy. Functional analysis in HEK293 cells showed that A401T markedly reduced potassium currents, slowed activation, and accelerated C\u2010type inactivation, consistent with loss\u2010of\u2010function (LOF), while shifting channel activation to more negative potentials, indicating gain\u2010of\u2010function (GOF). Overall, our findings expand both the clinical and functional spectrum of\n                    <jats:italic>KCNA1<\/jats:italic>\n                    \u2010related disorders by identifying autism spectrum disorder and tremor associated with a mixed LOF\/GOF\n                    <jats:italic>KCNA1<\/jats:italic>\n                    variant.\n                  <\/jats:p>","DOI":"10.1002\/acn3.70536","type":"journal-article","created":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T03:35:10Z","timestamp":1790048110000},"page":"2166-2171","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Novel\n                    <scp>\n                      <i>KCNA1<\/i>\n                    <\/scp>\n                    Variant in a Patient With Tremor and Autism Spectrum Disorder Causes Mixed\n                    <scp>LOF<\/scp>\n                    \/\n                    <scp>GOF<\/scp>\n                    Defects of Kv1.1 Channels"],"prefix":"10.1002","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6320-2641","authenticated-orcid":false,"given":"Juan Dar\u00edo","family":"Ortigoza\u2010Escobar","sequence":"first","affiliation":[{"name":"Movement Disorders Unit, Pediatric Neurology Department Institut de Recerca Hospital Sant Joan de D\u00e9u Barcelona  Barcelona Spain"},{"name":"U\u2010703 Centre for Biomedical Research on Rare Diseases (CIBER\u2010ER) Instituto de Salud Carlos III  Barcelona Spain"},{"name":"European Reference Network for Rare Neurological Diseases (ERN\u2010RND)  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5051-3053","authenticated-orcid":false,"given":"Laura","family":"Marti\u2010S\u00e1nchez","sequence":"additional","affiliation":[{"name":"Unitat de Gen\u00f2mica\u2010NGS, Servei Diagn\u00f2stic de Laboratori, Hospital Sant Joan de D\u00e9u  Barcelona 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Vittorio","family":"Buono","sequence":"additional","affiliation":[{"name":"Department of Pharmacy\u2010Drug Sciences University of Bari \u201cAldo Moro\u201d  Bari Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5652-7341","authenticated-orcid":false,"given":"Annamaria","family":"De Luca","sequence":"additional","affiliation":[{"name":"Department of Pharmacy\u2010Drug Sciences University of Bari \u201cAldo Moro\u201d  Bari Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4103-7577","authenticated-orcid":false,"given":"Antonella","family":"Liantonio","sequence":"additional","affiliation":[{"name":"Department of Pharmacy\u2010Drug Sciences University of Bari \u201cAldo Moro\u201d  Bari 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