{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T10:41:19Z","timestamp":1777804879522,"version":"3.51.4"},"reference-count":18,"publisher":"SAGE Publications","issue":"9","license":[{"start":{"date-parts":[[2025,4,10]],"date-time":"2025-04-10T00:00:00Z","timestamp":1744243200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2025,10]]},"abstract":"<jats:p>\n                    Paroxysmal dyskinesias, marked by sudden involuntary movements, poses diagnostic challenges because of its heterogeneous nature and overlap with other movement disorders. Genetic factors, especially variants in the\n                    <jats:italic toggle=\"yes\">ATP1A3<\/jats:italic>\n                    gene, have been linked to various neurologic conditions, including paroxysmal dystonia. We report a 5-year-old patient with a rare\n                    <jats:italic toggle=\"yes\">ATP1A3<\/jats:italic>\n                    gene variant (c.2309T&gt;G, p.(Leu770Arg)), previously documented in only 1 other patient. Unlike the earlier report, the patient presented distinct clinical features, with a focus on dystonia rather than hemiplegia and no intellectual impairment. This phenotypic variability highlights the challenges in diagnosis and treatment. We discuss differential diagnoses, including Alternating Hemiplegia of Childhood, and emphasize the need for comprehensive genetic testing and multidisciplinary care. Our study advocates for further research to better understand the spectrum of\n                    <jats:italic toggle=\"yes\">ATP1A3<\/jats:italic>\n                    -related disorders and enhance diagnostic accuracy and patient management in paroxysmal dystonia.\n                  <\/jats:p>","DOI":"10.1177\/08830738251327707","type":"journal-article","created":{"date-parts":[[2025,4,10]],"date-time":"2025-04-10T10:04:26Z","timestamp":1744279466000},"page":"794-798","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":1,"title":["Unusual Phenotypic Variability in Paroxysmal Dystonia Associated with Rare\n                    <i>ATP1A3<\/i>\n                    Mutation: A Case Report and Review"],"prefix":"10.1177","volume":"40","author":[{"given":"Martyna A.","family":"Czylok","sequence":"first","affiliation":[{"name":"Medical University of Gdansk"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-6978-3152","authenticated-orcid":false,"given":"Milena","family":"Prokopiuk","sequence":"additional","affiliation":[{"name":"Medical University of Gdansk"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-6707-0538","authenticated-orcid":false,"given":"Katarzyna","family":"Meller","sequence":"additional","affiliation":[{"name":"Medical University of Gdansk"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4562-1882","authenticated-orcid":false,"given":"Marta","family":"Zawadzka","sequence":"additional","affiliation":[{"name":"Medical University of Gdansk"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Mazurkiewicz-Be\u0142dzi\u0144ska","sequence":"additional","affiliation":[{"name":"Medical University of Gdansk"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2025,4,10]]},"reference":[{"key":"e_1_3_2_2_2","doi-asserted-by":"publisher","DOI":"10.2217\/fnl-2018-0047"},{"key":"e_1_3_2_3_2","doi-asserted-by":"crossref","DOI":"10.3389\/fneur.2021.659064","article-title":"Paroxysmal movement disorders","volume":"12","author":"Harvey S","year":"2021","unstructured":"Harvey S, King MD, Gorman KM. Paroxysmal movement disorders. Front Neurol. 2021;12:659064. doi:https:\/\/doi.org\/10.3389\/fneur.2021.659064","journal-title":"Front Neurol"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.1007\/s13258-023-01481-8"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000200927"},{"key":"e_1_3_2_6_2","doi-asserted-by":"publisher","DOI":"10.1242\/dmm.048938"},{"key":"e_1_3_2_7_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0097274"},{"key":"e_1_3_2_8_2","unstructured":"Unique variants in the ATP1A3 gene - Global Variome shared LOVD. Accessed February 2 2025 https:\/\/databases.lovd.nl\/shared\/variants\/ATP1A3\/unique"},{"key":"e_1_3_2_9_2","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000139"},{"key":"e_1_3_2_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2021.05.004"},{"key":"e_1_3_2_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2013.08.007"},{"key":"e_1_3_2_12_2","unstructured":"Orphanet: alternating hemiplegia of childhood. https:\/\/www.orpha.net\/en\/disease\/detail\/2131?name=AHC&mode=name Accessed June 14 2024."},{"key":"e_1_3_2_13_2","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2021.637890"},{"key":"e_1_3_2_14_2","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2021.658451"},{"key":"e_1_3_2_15_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awv243"},{"key":"e_1_3_2_16_2","doi-asserted-by":"crossref","unstructured":"Srour MK Bidzimou M-TK Muralidharan P et al. Children and adolescent patients with variants in the ATP1A3-encoded sodium-potassium ATPase alpha-3 subunit demonstrate an impaired QT response to bradycardia and predisposition to sinus node dysfunction. medRxiv September 1 2024 p 2024.08.31.24312446. doi:https:\/\/doi.org\/10.1101\/2024.08.31.24312446","DOI":"10.1101\/2024.08.31.24312446"},{"key":"e_1_3_2_17_2","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2022.924788"},{"key":"e_1_3_2_18_2","doi-asserted-by":"publisher","DOI":"10.1159\/000509287"},{"key":"e_1_3_2_19_2","doi-asserted-by":"publisher","DOI":"10.3390\/toxins16060282"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/08830738251327707","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/08830738251327707","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/08830738251327707","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T20:41:31Z","timestamp":1777495291000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/08830738251327707"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,4,10]]},"references-count":18,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2025,10]]}},"alternative-id":["10.1177\/08830738251327707"],"URL":"https:\/\/doi.org\/10.1177\/08830738251327707","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,4,10]]}}}