{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T10:41:06Z","timestamp":1777804866406,"version":"3.51.4"},"reference-count":12,"publisher":"SAGE Publications","issue":"5","license":[{"start":{"date-parts":[[2025,1,17]],"date-time":"2025-01-17T00:00:00Z","timestamp":1737072000000},"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":[[2025,5]]},"abstract":"<jats:p>\n                    Mitochondrial complex I transfers electrons from NADH (nicotinamide adenine dinucleotide) to ubiquinone, facilitating ATP synthesis via a proton gradient. Complex I defects are common among the mitochondrial diseases, especially in childhood.\n                    <jats:italic>NDUFA12<\/jats:italic>\n                    , located in complex I's transmembrane domain, is not directly involved in catalytic activity, but the\n                    <jats:italic>NDUFA<\/jats:italic>\n                    mutations are associated with Leigh syndrome and complex I defects. Complex I deficiency typically manifests as bilateral brainstem lesions and presents with dystonia, hypotonia, and optic nerve damage. This article discusses a patient with an\n                    <jats:italic>NDUFA12<\/jats:italic>\n                    mutation resembling neuromyelitis optica spectrum disorder clinically and radiologically, highlighting the importance of considering\n                    <jats:italic>NDUFA12<\/jats:italic>\n                    mutations in dystonia and optic neuritis diagnoses, particularly in neuromyelitis optica spectrum disorder cases that do not respond to standard treatments. Further research on\n                    <jats:italic>NDUFA12<\/jats:italic>\n                    variants is needed for a better understanding of their phenotypic spectrum and to enhance diagnostic accuracy.\n                  <\/jats:p>","DOI":"10.1177\/08830738241313081","type":"journal-article","created":{"date-parts":[[2025,1,17]],"date-time":"2025-01-17T11:13:12Z","timestamp":1737112392000},"page":"379-382","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["When the Expected Scenario Did Not Occur: A Novel\n                    <i>NDUFA12<\/i>\n                    Mutation Resembling Neuromyelitis Optica Spectrum Disorder"],"prefix":"10.1177","volume":"40","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-4187-9311","authenticated-orcid":false,"given":"Ahmet","family":"Ko\u00e7ak","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Ankara Etlik City Hospital, Ankara, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emek","family":"Uyur Yal\u00e7in","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Child Neurology, Zeynep Kamil Maternity and Children's Diseases Training and Research Hospital, University of Health Sciences, \u0130stanbul, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nil\u00fcfer","family":"Elde\u015f Hacifazlio\u011flu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Child Neurology, Zeynep Kamil Maternity and Children's Diseases Training and Research Hospital, University of Health Sciences, \u0130stanbul, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u0130brahim","family":"Ta\u015f","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Metabolism, \u00dcmraniye Training and Research Hospital, \u0130stanbul, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rah\u015fan","family":"G\u00f6\u00e7men","sequence":"additional","affiliation":[{"name":"Department of Radiology, Hacettepe University Faculty of Medicine, Ankara, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bahad\u0131r","family":"Konu\u015fkan","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Child Neurology, Ankara Etlik City Hospital, Ankara, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2025,1,17]]},"reference":[{"key":"e_1_3_2_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0005-2728(03)00059-8"},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2012-101159"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.febslet.2014.03.046"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2011.088856"},{"key":"e_1_3_2_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.24551"},{"key":"e_1_3_2_7_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2013-101604"},{"key":"e_1_3_2_8_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-023-11634-0"},{"key":"e_1_3_2_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.spen.2023.101051"},{"key":"e_1_3_2_10_2","doi-asserted-by":"publisher","DOI":"10.1177\/1756285617709723"},{"key":"e_1_3_2_11_2","doi-asserted-by":"publisher","DOI":"10.1177\/13524585231172950"},{"issue":"4","key":"e_1_3_2_12_2","first-page":"726","article-title":"Brain MRI findings in pediatric-onset neuromyelitis optica spectrum disorder: challenges in differentiation from acute disseminated encephalomyelitis","volume":"40","author":"Bulut E","year":"2019","unstructured":"Bulut E, Karakaya J, Salama S, Levy M, Huisman TAGM, Izbudak I. Brain MRI findings in pediatric-onset neuromyelitis optica spectrum disorder: challenges in differentiation from acute disseminated encephalomyelitis. AJNR Am J Neuroradiol. 2019;40(4):726-731. doi:https:\/\/doi.org\/10.3174\/ajnr.A6003","journal-title":"AJNR Am J Neuroradiol"},{"key":"e_1_3_2_13_2","doi-asserted-by":"publisher","DOI":"10.1002\/mdc3.13398"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/08830738241313081","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/08830738241313081","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/08830738241313081","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T20:41:27Z","timestamp":1777495287000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/08830738241313081"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,1,17]]},"references-count":12,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2025,5]]}},"alternative-id":["10.1177\/08830738241313081"],"URL":"https:\/\/doi.org\/10.1177\/08830738241313081","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,1,17]]}}}