{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,28]],"date-time":"2026-08-28T07:25:26Z","timestamp":1787901926263,"version":"build-2784847793"},"reference-count":11,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2012,8,28]],"date-time":"2012-08-28T00:00:00Z","timestamp":1346112000000},"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":[[2012,11]]},"abstract":"<jats:p>We report new clinical features of delayed motor development, hypotonia, and ataxia in two young children with mutations (R756H and D923N) in the <jats:italic>ATP1A3<\/jats:italic> gene. In adults, mutations in <jats:italic>ATP1A3<\/jats:italic> cause rapid\u2010onset dystonia\u2013Parkinsonism (RDP, DYT12) with abrupt onset of fixed dystonia. The parents and children were examined and videotaped, and samples were collected for mutation analysis. Case 1 presented with fluctuating spells of hypotonia, dysphagia, mutism, dystonia, and ataxia at 9\u2003months. After three episodes of hypotonia, she developed ataxia, inability to speak or swallow, and eventual seizures. Case 2 presented with hypotonia at 14\u2003months and pre\u2010existing motor delay. At age 4\u2003years, he had episodic slurred speech, followed by ataxia, drooling, and dysarthria. He remains mute. Both children had <jats:italic>ATP1A3<\/jats:italic> gene mutations. To our knowledge, these are the earliest presentations of RDP, both with fluctuating features. Both children were initially misdiagnosed. RDP should be considered in children with discoordinated gait, and speech and swallowing difficulties.<\/jats:p>","DOI":"10.1111\/j.1469-8749.2012.04421.x","type":"journal-article","created":{"date-parts":[[2012,8,28]],"date-time":"2012-08-28T07:19:15Z","timestamp":1346138355000},"page":"1065-1067","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":82,"title":["<i>ATP1A3<\/i> mutations in infants: a new rapid\u2010onset dystonia\u2013Parkinsonism phenotype characterized by motor delay and ataxia"],"prefix":"10.1111","volume":"54","author":[{"given":"ALLISON","family":"BRASHEAR","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"JONATHAN W","family":"MINK","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"DEBORAH F","family":"HILL","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"NIKI","family":"BOGGS","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W VAUGHN","family":"MCCALL","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"MARK A","family":"STACY","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"BEVERLY","family":"SNIVELY","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"LANEY S","family":"LIGHT","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"KATHLEEN J","family":"SWEADNER","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"LAURIE J","family":"OZELIUS","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"LESLIE","family":"MORRISON","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,8,28]]},"reference":[{"key":"e_1_2_7_2_2","first-page":"335","article-title":"Rapid\u2010onset dystonia\u2010parkinsonism: a report of clinical, biochemical, and genetic studies in two families","volume":"78","author":"Brashear A","year":"1998","journal-title":"Adv Neurol"},{"key":"e_1_2_7_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.870110206"},{"key":"e_1_2_7_4_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.48.4.1066"},{"key":"e_1_2_7_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2004.06.028"},{"key":"e_1_2_7_6_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.43.12.2596"},{"key":"e_1_2_7_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2008.06.033"},{"key":"e_1_2_7_8_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181b04acd"},{"issue":"2","key":"e_1_2_7_9_2","first-page":"A204","article-title":"Denovo and recurrent mutations in ATP1A3 are common in rapid\u2010onset dystonia\u2010parkinsonism","volume":"74","author":"Brashear A","year":"2010","journal-title":"Neurology"},{"key":"e_1_2_7_10_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awl340"},{"key":"e_1_2_7_11_2","unstructured":"Exome Variant Server.NHLBI Exome Sequencing Project (ESP). [Internet.] Seattle WA:NHLBI GO Exome Sequencing Project(cited 17 May 2012). Available from:http:\/\/evs.gs.washington.edu\/EVS\/."},{"key":"e_1_2_7_12_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000127310.11526.FD"}],"container-title":["Developmental Medicine &amp; Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1469-8749.2012.04421.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1469-8749.2012.04421.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,15]],"date-time":"2023-10-15T23:21:51Z","timestamp":1697412111000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1469-8749.2012.04421.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,8,28]]},"references-count":11,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2012,11]]}},"alternative-id":["10.1111\/j.1469-8749.2012.04421.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1469-8749.2012.04421.x","archive":["Portico"],"relation":{},"ISSN":["0012-1622","1469-8749"],"issn-type":[{"value":"0012-1622","type":"print"},{"value":"1469-8749","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,8,28]]},"assertion":[{"value":"2012-08-28","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}