{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T03:55:49Z","timestamp":1792468549359,"version":"4.5.0"},"reference-count":16,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2015,9,23]],"date-time":"2015-09-23T00:00:00Z","timestamp":1442966400000},"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":[[2015,12]]},"abstract":"<jats:p><jats:italic><jats:styled-content style=\"fixed-case\">ATP<\/jats:styled-content>1A3,<\/jats:italic> the gene encoding the <jats:italic>\u03b1<\/jats:italic>3\u2010subunit of the Na<jats:sup>+<\/jats:sup>\/K<jats:sup>+<\/jats:sup>\u2010<jats:styled-content style=\"fixed-case\">ATP<\/jats:styled-content>ase pump, has been involved in four clinical neurological entities: (1) alternating hemiplegia of childhood (<jats:styled-content style=\"fixed-case\">AHC<\/jats:styled-content>); (2) rapid\u2010onset dystonia parkinsonism (<jats:styled-content style=\"fixed-case\">RDP<\/jats:styled-content>); (3) <jats:styled-content style=\"fixed-case\">CAPOS<\/jats:styled-content> (cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss) syndrome; and (4) early infantile epileptic encephalopathy. Here, we report on a 34\u2010year\u2010old female presenting with a new <jats:italic><jats:styled-content style=\"fixed-case\">ATP<\/jats:styled-content>1A3<\/jats:italic>\u2010related entity involving a relapsing encephalopathy characterized by recurrent episodes of cerebellar ataxia and altered consciousness during febrile illnesses. The term <jats:styled-content style=\"fixed-case\">RECA<\/jats:styled-content> is suggested \u2013 relapsing encephalopathy with cerebellar ataxia. The phenotype of this patient, resembling mitochondrial oxidative phosphorylation defects, emphasizes the possible role of brain energy deficiency in patients with <jats:italic>ATP1A3<\/jats:italic> mutations. Rather than multiple overlapping syndromes, <jats:italic><jats:styled-content style=\"fixed-case\">ATP<\/jats:styled-content>1A3<\/jats:italic>\u2010related disorders might be seen as a phenotypic continuum.<\/jats:p>","DOI":"10.1111\/dmcn.12927","type":"journal-article","created":{"date-parts":[[2015,9,24]],"date-time":"2015-09-24T04:32:16Z","timestamp":1443069136000},"page":"1183-1186","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":96,"title":["Relapsing encephalopathy with cerebellar ataxia related to an <i><scp>ATP<\/scp>1A3<\/i> mutation"],"prefix":"10.1111","volume":"57","author":[{"given":"Rodolphe","family":"Dard","sequence":"first","affiliation":[{"name":"Department of Genetics AP\u2010HP La Piti\u00e9\u2010Salp\u00eatri\u00e8re University Hospital Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cyril","family":"Mignot","sequence":"additional","affiliation":[{"name":"Department of Genetics AP\u2010HP La Piti\u00e9\u2010Salp\u00eatri\u00e8re University Hospital Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra","family":"Durr","sequence":"additional","affiliation":[{"name":"Department of Genetics AP\u2010HP La Piti\u00e9\u2010Salp\u00eatri\u00e8re University Hospital Paris France"},{"name":"Inserm Institut du Cerveau et de la Moelle \u00e9pini\u00e8re Sorbonne Universit\u00e9s UPMC University Paris Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gaetan","family":"Lesca","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Lyon University Hospital Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Damien","family":"Sanlaville","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Lyon University Hospital Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuel","family":"Roze","sequence":"additional","affiliation":[{"name":"Inserm Institut du Cerveau et de la Moelle \u00e9pini\u00e8re Sorbonne Universit\u00e9s UPMC University Paris Paris France"},{"name":"Department of Neurology AP\u2010HP La Piti\u00e9\u2010Salp\u00eatri\u00e8re University Hospital Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fanny","family":"Mochel","sequence":"additional","affiliation":[{"name":"Department of Genetics AP\u2010HP La Piti\u00e9\u2010Salp\u00eatri\u00e8re University Hospital Paris France"},{"name":"Inserm Institut du Cerveau et de la Moelle \u00e9pini\u00e8re Sorbonne Universit\u00e9s UPMC University Paris Paris France"},{"name":"Bioclinic and Genetic Unit of Neurometabolic Diseases Piti\u00e9\u2010Salp\u00eatri\u00e8re Hospital Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,9,23]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrm3031"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.12914"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(14)70011-0"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-9-15"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awl340"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2014.09.015"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000000212"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000000102"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/nprot.2009.86"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.2890"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2012.04421.x"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2008.03.008"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0060141"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2013.11.017"},{"key":"e_1_2_7_17_1","first-page":"7","article-title":"Excellent response to a ketogenic diet in a patient with alternating hemiplegia of childhood","volume":"15","author":"Roubergue A","year":"2015","journal-title":"JIMD Rep"}],"container-title":["Developmental Medicine &amp; 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