{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,5]],"date-time":"2026-02-05T07:59:34Z","timestamp":1770278374685,"version":"3.49.0"},"reference-count":21,"publisher":"Elsevier BV","issue":"8","license":[{"start":{"date-parts":[[2021,9,1]],"date-time":"2021-09-01T00:00:00Z","timestamp":1630454400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2021,9,1]],"date-time":"2021-09-01T00:00:00Z","timestamp":1630454400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"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":[[2021,9]]},"DOI":"10.1016\/j.braindev.2021.04.009","type":"journal-article","created":{"date-parts":[[2021,5,28]],"date-time":"2021-05-28T07:52:42Z","timestamp":1622188362000},"page":"873-878","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":17,"title":["Recurrent acute necrotizing encephalopathy in a boy with RANBP2 mutation and thermolabile CPT2 variant: The first case of ANE1 in Japan"],"prefix":"10.1016","volume":"43","author":[{"given":"Eri","family":"Ohashi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Itaru","family":"Hayakawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuka","family":"Murofushi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michiko","family":"Kawai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sato","family":"Suzuki-Muromoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuichi","family":"Abe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michiko","family":"Yoshida","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naoko","family":"Kono","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rika","family":"Kosaki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ai","family":"Hoshino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masashi","family":"Mizuguchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masaya","family":"Kubota","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.braindev.2021.04.009_b0005","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1016\/S0387-7604(96)00063-0","article-title":"Acute necrotizing encephalopathy of childhood: a novel form of acute encephalopathy prevalent in Japan and Taiwan","volume":"19","author":"Mizuguchi","year":"1997","journal-title":"Brain Dev"},{"key":"10.1016\/j.braindev.2021.04.009_b0010","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1016\/j.ejpn.2014.11.010","article-title":"RANBP2 mutation and acute necrotizing encephalopathy: 2 cases and a literature review of the expanding clinico-radiological phenotype","volume":"19","author":"Singh","year":"2015","journal-title":"Eur J Paediatr Neurol"},{"key":"10.1016\/j.braindev.2021.04.009_b0015","doi-asserted-by":"crossref","first-page":"384","DOI":"10.1016\/j.braindev.2011.08.001","article-title":"Immunomodulatory therapy in recurrent acute necrotizing encephalopathy ANE1: Is it useful?","volume":"34","author":"Bergamino","year":"2012","journal-title":"Brain Dev"},{"key":"10.1016\/j.braindev.2021.04.009_b0020","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1016\/j.ajhg.2008.12.009","article-title":"Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2","volume":"84","author":"Neilson","year":"2009","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.braindev.2021.04.009_b0025","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1016\/j.braindev.2010.09.002","article-title":"Carnitine palmitoyl transferase II polymorphism is associated with multiple syndromes of acute encephalopathy with various infectious diseases","volume":"33","author":"Shinohara","year":"2011","journal-title":"Brain Dev"},{"key":"10.1016\/j.braindev.2021.04.009_b0030","doi-asserted-by":"crossref","first-page":"2040","DOI":"10.1016\/j.febslet.2005.02.050","article-title":"Thermolabile phenotype of carnitine palmitoyltransferase II variations as a predisposing factor for influenza-associated encephalopathy","volume":"579","author":"Chen","year":"2005","journal-title":"FEBS Lett"},{"key":"10.1016\/j.braindev.2021.04.009_b0035","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1002\/(SICI)1098-1004(1998)11:5<377::AID-HUMU5>3.0.CO;2-E","article-title":"Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: functional analysis and association with polymorphic haplotypes and two clinical phenotypes","volume":"11","author":"Wataya","year":"1998","journal-title":"Hum Mutat"},{"key":"10.1016\/j.braindev.2021.04.009_b0040","doi-asserted-by":"crossref","first-page":"322","DOI":"10.1016\/j.braindev.2014.05.007","article-title":"A severity score for acute necrotizing encephalopathy","volume":"37","author":"Yamamoto","year":"2015","journal-title":"Brain Dev"},{"key":"10.1016\/j.braindev.2021.04.009_b0045","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1016\/j.msard.2020.102194","article-title":"Genetic acute necrotizing encephalopathy associated with RANBP2: clinical and therapeutic implications in pediatrics","volume":"43","author":"Levine","year":"2020","journal-title":"Mult Scler Relat Disord"},{"key":"10.1016\/j.braindev.2021.04.009_b0050","doi-asserted-by":"crossref","first-page":"751","DOI":"10.1097\/MOP.0b013e3283402bfe","article-title":"The interplay of infection and genetics in acute necrotizing encephalopathy","volume":"22","author":"Neilson","year":"2010","journal-title":"Curr Opin Pediatr"},{"key":"10.1016\/j.braindev.2021.04.009_b0055","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1016\/j.braindev.2017.02.005","article-title":"Familial acute necrotizing encephalopathy with RANBP2 mutation: the first report in Northeast Asia","volume":"39","author":"Lee","year":"2017","journal-title":"Brain Dev"},{"key":"10.1016\/j.braindev.2021.04.009_b0060","doi-asserted-by":"crossref","first-page":"1215","DOI":"10.1111\/ped.13119","article-title":"Familial acute necrotizing encephalopathy without RANBP2 mutation: poor outcome","volume":"58","author":"Nishimura","year":"2016","journal-title":"Pediatr Int"},{"key":"10.1016\/j.braindev.2021.04.009_b0065","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1111\/j.1469-8749.2009.03405.x","article-title":"Recurrent acute necrotizing encephalopathy following influenza A in a genetically predisposed family","volume":"52","author":"Gika","year":"2010","journal-title":"Dev Med Child Neurol"},{"key":"10.1016\/j.braindev.2021.04.009_b0070","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1016\/j.braindev.2008.03.005","article-title":"Outcome of acute necrotizing encephalopathy in relation to treatment with corticosteroids and gammaglobulin","volume":"31","author":"Okumura","year":"2009","journal-title":"Brain Dev"},{"key":"10.1016\/j.braindev.2021.04.009_b0075","doi-asserted-by":"crossref","first-page":"862","DOI":"10.1016\/j.braindev.2019.07.008","article-title":"Thermolabile polymorphism of carnitine palmitoyltransferase 2: a genetic risk factor of overall acute encephalopathy","volume":"41","author":"Shibata","year":"2019","journal-title":"Brain Dev"},{"key":"10.1016\/j.braindev.2021.04.009_b0080","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1055\/s-0032-1333439","article-title":"A case of recurrent acute encephalopathy with febrile convulsive status epilepticus with carnitine palmitoyltransferase II variation","volume":"44","author":"Sakai","year":"2013","journal-title":"Neuropediatrics"},{"key":"10.1016\/j.braindev.2021.04.009_b0085","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1016\/j.jns.2013.12.026","article-title":"Carnitine palmitoyltransferase II (CPT II) deficiency: Genotype\u2013Phenotype analysis of 50 patients","volume":"338","author":"Joshi","year":"2014","journal-title":"J Neurol Sci"},{"key":"10.1016\/j.braindev.2021.04.009_b0090","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1016\/j.braindev.2010.12.012","article-title":"Thermolabile CPT II variants and low blood ATP levels are closely related to severity of acute encephalopathy in Japanese children","volume":"34","author":"Kubota","year":"2012","journal-title":"Brain Dev"},{"key":"10.1016\/j.braindev.2021.04.009_b0095","doi-asserted-by":"crossref","first-page":"718","DOI":"10.1002\/humu.20717","article-title":"Thermal instability of compound variants of carnitine palmitoyltransferase II and impaired mitochondrial fuel utilization in influenza-associated encephalopathy","volume":"29","author":"Yao","year":"2008","journal-title":"Hum Mutat"},{"key":"10.1016\/j.braindev.2021.04.009_b0100","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.0020177","article-title":"RanBP2 modurates Cox11 and hexokinase I activities and haploinsufficiency of RanBP2 causes deficits in glucose metabolism","volume":"2","author":"Aslanukov","year":"2006","journal-title":"PLoS Genet"},{"key":"10.1016\/j.braindev.2021.04.009_b0105","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1212\/01.WNL.0000073544.28775.1A","article-title":"Autosomal dominant acute necrotizing enceph-alopathy","volume":"61","author":"Neilson","year":"2003","journal-title":"Neurology"}],"container-title":["Brain and Development"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0387760421000875?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0387760421000875?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,8]],"date-time":"2025-10-08T19:49:34Z","timestamp":1759952974000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0387760421000875"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,9]]},"references-count":21,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2021,9]]}},"alternative-id":["S0387760421000875"],"URL":"https:\/\/doi.org\/10.1016\/j.braindev.2021.04.009","relation":{},"ISSN":["0387-7604"],"issn-type":[{"value":"0387-7604","type":"print"}],"subject":[],"published":{"date-parts":[[2021,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Recurrent acute necrotizing encephalopathy in a boy with RANBP2 mutation and thermolabile CPT2 variant: The first case of ANE1 in Japan","name":"articletitle","label":"Article Title"},{"value":"Brain and Development","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.braindev.2021.04.009","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"simple-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"}]}}