{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,6]],"date-time":"2026-03-06T21:08:21Z","timestamp":1772831301772,"version":"3.50.1"},"reference-count":10,"publisher":"Elsevier BV","issue":"10","license":[{"start":{"date-parts":[[2024,11,1]],"date-time":"2024-11-01T00:00:00Z","timestamp":1730419200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,11,1]],"date-time":"2024-11-01T00:00:00Z","timestamp":1730419200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/100020050","name":"Japan Intractable Diseases Research Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100020050","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003478","name":"Government of Japan Ministry of Health Labour and Welfare","doi-asserted-by":"publisher","award":["JPMH23FC1008"],"award-info":[{"award-number":["JPMH23FC1008"]}],"id":[{"id":"10.13039\/501100003478","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.fr","clinicalkey.jp","clinicalkey.es","clinicalkey.com.au","brainanddevelopment.com","clinicalkey.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Brain and Development"],"published-print":{"date-parts":[[2024,11]]},"DOI":"10.1016\/j.braindev.2024.08.001","type":"journal-article","created":{"date-parts":[[2024,8,19]],"date-time":"2024-08-19T20:08:16Z","timestamp":1724098096000},"page":"309-312","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":1,"title":["A nationwide survey of Vici syndrome in Japan"],"prefix":"10.1016","volume":"46","author":[{"given":"Ikumi","family":"Hori","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toshihiko","family":"Iwaki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emi","family":"Sato","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daisuke","family":"Ieda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yutaka","family":"Negishi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ayako","family":"Hattori","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shinji","family":"Saitoh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.braindev.2024.08.001_bb0005","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/ajmg.1320290102","article-title":"Agenesis of the corpus callosum, combined immunodeficiency, bilateral cataract, and hypopigmentation in two brothers","volume":"29","author":"Dionisi Vici","year":"1988","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.braindev.2024.08.001_bb0010","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1186\/s13023-016-0399-x","article-title":"Vici syndrome: a review","volume":"11","author":"Byrne","year":"2016","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.braindev.2024.08.001_bb0015","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1038\/ng.2497","article-title":"Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy","volume":"45","author":"Cullup","year":"2013","journal-title":"Nat. Genet."},{"key":"10.1016\/j.braindev.2024.08.001_bb0020","doi-asserted-by":"crossref","first-page":"2861","DOI":"10.1101\/gad.1599207","article-title":"Autophagy: process and function","volume":"21","author":"Mizushima","year":"2007","journal-title":"Genes Dev."},{"key":"10.1016\/j.braindev.2024.08.001_bb0025","doi-asserted-by":"crossref","first-page":"3552","DOI":"10.1038\/s41598-017-02840-8","article-title":"Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement","volume":"7","author":"Hori","year":"2017","journal-title":"Sci. Rep."},{"key":"10.1016\/j.braindev.2024.08.001_bb0030","series-title":"GeneReviews\u00ae [internet]","first-page":"1993","article-title":"EPG5-related disorder","author":"Dafsari","year":"2022"},{"key":"10.1016\/j.braindev.2024.08.001_bb0035","doi-asserted-by":"crossref","first-page":"2803","DOI":"10.1002\/ajmg.a.40500","article-title":"Novel compound heterozygous EPG5 mutations consisted with a missense mutation and a microduplication in the exon 1 region identified in a Japanese patient with Vici syndrome","volume":"176","author":"Shimada","year":"2018","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.braindev.2024.08.001_bb0040","doi-asserted-by":"crossref","DOI":"10.1136\/bcr-2023-255847","article-title":"Perinatal clinical course of Vici syndrome associated with novel EPG5 variants: unique cardiac changes and difficulty with foetal diagnosis","volume":"17","author":"Shima","year":"2024","journal-title":"BMJ Case Rep."},{"key":"10.1016\/j.braindev.2024.08.001_bb0045","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1002\/ajmg.a.31584","article-title":"Sibling cases of Vici syndrome: sleep abnormalities and complications of renal tubular acidosis","volume":"143","author":"Miyata","year":"2007","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.braindev.2024.08.001_bb0050","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1002\/ajmg.a.34244","article-title":"Immunodeficiency in Vici syndrome: a heterogeneous phenotype","volume":"158A","author":"Finocchi","year":"2012","journal-title":"Am. J. Med. Genet. A"}],"container-title":["Brain and Development"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0387760424001116?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0387760424001116?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,11,1]],"date-time":"2024-11-01T12:27:56Z","timestamp":1730464076000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0387760424001116"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,11]]},"references-count":10,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2024,11]]}},"alternative-id":["S0387760424001116"],"URL":"https:\/\/doi.org\/10.1016\/j.braindev.2024.08.001","relation":{},"ISSN":["0387-7604"],"issn-type":[{"value":"0387-7604","type":"print"}],"subject":[],"published":{"date-parts":[[2024,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A nationwide survey of Vici syndrome in Japan","name":"articletitle","label":"Article Title"},{"value":"Brain and Development","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.braindev.2024.08.001","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2024 The Japanese Society of Child Neurology. Elsevier B.V.  All rights are reserved, including those for text and data mining, AI training, and similar technologies.","name":"copyright","label":"Copyright"}]}}