{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,13]],"date-time":"2026-02-13T13:39:44Z","timestamp":1770989984519,"version":"3.50.1"},"reference-count":14,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2022,8,25]],"date-time":"2022-08-25T00:00:00Z","timestamp":1661385600000},"content-version":"am","delay-in-days":236,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["brainanddevelopment.com","clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Brain and Development"],"published-print":{"date-parts":[[2022,1]]},"DOI":"10.1016\/j.braindev.2021.08.005","type":"journal-article","created":{"date-parts":[[2021,8,25]],"date-time":"2021-08-25T01:28:25Z","timestamp":1629854905000},"page":"56-62","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":7,"title":["Mitochondrial DNA depletion syndrome with a mutation in SLC25A4 developing epileptic encephalopathy: A case report"],"prefix":"10.1016","volume":"44","author":[{"given":"Tomoko","family":"Kashiki","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jun","family":"Kido","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ken","family":"Momosaki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shouichirou","family":"Kusunoki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shiro","family":"Ozasa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Keiko","family":"Nomura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Atsuko","family":"Imai-Okazaki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomoko","family":"Tsuruoka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kei","family":"Murayama","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yasutoshi","family":"Koga","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kimitoshi","family":"Nakamura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.braindev.2021.08.005_b0005","doi-asserted-by":"crossref","first-page":"1539","DOI":"10.1016\/j.bbadis.2017.02.017","article-title":"Mitochondrial DNA maintenance defects","volume":"1863","author":"El-Hattab","year":"2017","journal-title":"Biochim Biophys Acta Mol Basis Dis"},{"key":"10.1016\/j.braindev.2021.08.005_b0010","doi-asserted-by":"crossref","first-page":"1","DOI":"10.3390\/biom10040655","article-title":"Diseases caused by mutations in mitochondrial carrier genes SLC25: A review","volume":"10","author":"Palmieri","year":"2020","journal-title":"Biomolecules"},{"key":"10.1016\/j.braindev.2021.08.005_b0015","doi-asserted-by":"crossref","first-page":"782","DOI":"10.1126\/science.289.5480.782","article-title":"Role of adenine nucleotide translocator 1 in mtDNA maintenance","volume":"289","author":"Kaukonen","year":"2000","journal-title":"Science"},{"key":"10.1016\/j.braindev.2021.08.005_b0020","doi-asserted-by":"crossref","first-page":"3079","DOI":"10.1093\/hmg\/ddi341","article-title":"Complete loss-of-function of the heart\/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy","volume":"14","author":"Palmieri","year":"2005","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.braindev.2021.08.005_b0025","doi-asserted-by":"crossref","first-page":"860","DOI":"10.1016\/j.ajhg.2016.08.014","article-title":"Erratum: Recurrent De Novo dominant mutations in SLC25A4 cause severe early-onset mitochondrial disease and loss of mitochondrial DNA copy number","volume":"99","author":"Thompson","year":"2016","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.braindev.2021.08.005_b0030","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1016\/j.clp.2019.10.008","article-title":"Depletion syndromes","volume":"47","author":"Basel","year":"2020","journal-title":"Clin Perinatol"},{"key":"10.1016\/j.braindev.2021.08.005_b0035","doi-asserted-by":"crossref","first-page":"814","DOI":"10.1002\/ana.24506","article-title":"Growth differentiation factor 15 as a useful biomarker for mitochondrial disorders","volume":"78","author":"Yatsuga","year":"2015","journal-title":"Ann Neurol"},{"key":"10.1016\/j.braindev.2021.08.005_b0040","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1016\/j.braindev.2020.08.001","article-title":"Guidelines for the diagnosis and treatment of acute encephalopathy in childhood","volume":"43","author":"Mizuguchi","year":"2021","journal-title":"Brain Dev"},{"key":"10.1016\/j.braindev.2021.08.005_b0045","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1007\/s00431-008-0753-7","article-title":"Intractable secretory diarrhea in a Japanese boy with mitochondrial respiratory chain complex I deficiency","volume":"168","author":"Murayama","year":"2009","journal-title":"Eur J Pediatr"},{"key":"10.1016\/j.braindev.2021.08.005_b0050","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s13023-020-01441-5","article-title":"Clinical and molecular basis of hepatocerebral mitochondrial DNA depletion syndrome in Japan: Evaluation of outcomes after liver transplantation","volume":"15","author":"Shimura","year":"2020","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.braindev.2021.08.005_b0055","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1016\/j.mam.2012.05.006","article-title":"The mitochondrial ADP\/ATP carrier (SLC25 family): Pathological implications of its dysfunction","volume":"34","author":"Cl\u00e9men\u00e7on","year":"2013","journal-title":"Mol Aspects Med"},{"key":"10.1016\/j.braindev.2021.08.005_b0060","doi-asserted-by":"crossref","first-page":"3627","DOI":"10.1093\/brain\/aws223","article-title":"Acute mitochondrial encephalopathy reflects neuronal energy failure irrespective of which genome the genetic defect affects","volume":"135","author":"Tzoulis","year":"2012","journal-title":"Brain"},{"key":"10.1016\/j.braindev.2021.08.005_b0065","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.mito.2014.10.007","article-title":"Clinical application of whole exome sequencing reveals a novel compound heterozygous TK2-mutation in two brothers with rapidly progressive combined muscle-brain atrophy, axonal neuropathy, and status epilepticus","volume":"20","author":"Knierim","year":"2015","journal-title":"Mitochondrion"},{"key":"10.1016\/j.braindev.2021.08.005_b0070","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1016\/j.ymgmr.2018.06.004","article-title":"Extra-muscular manifestations of TK2 deficiency","volume":"16","author":"El-Hattab","year":"2018","journal-title":"Mol Genet Metab Reports"}],"container-title":["Brain and Development"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0387760421001558?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0387760421001558?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,8]],"date-time":"2025-10-08T19:50:25Z","timestamp":1759953025000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0387760421001558"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,1]]},"references-count":14,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2022,1]]}},"alternative-id":["S0387760421001558"],"URL":"https:\/\/doi.org\/10.1016\/j.braindev.2021.08.005","relation":{},"ISSN":["0387-7604"],"issn-type":[{"value":"0387-7604","type":"print"}],"subject":[],"published":{"date-parts":[[2022,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Mitochondrial DNA depletion syndrome with a mutation in SLC25A4 developing epileptic encephalopathy: A case report","name":"articletitle","label":"Article Title"},{"value":"Brain and Development","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.braindev.2021.08.005","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2021 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}