{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T20:29:30Z","timestamp":1789504170754,"version":"build-2803163510"},"reference-count":11,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2016,3,1]],"date-time":"2016-03-01T00:00:00Z","timestamp":1456790400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":["clinicalkey.jp","clinicalkey.com","clinicalkey.es","clinicalkey.com.au","clinicalkey.fr","brainanddevelopment.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Brain and Development"],"published-print":{"date-parts":[[2016,3]]},"DOI":"10.1016\/j.braindev.2015.09.008","type":"journal-article","created":{"date-parts":[[2015,10,21]],"date-time":"2015-10-21T02:59:34Z","timestamp":1445396374000},"page":"341-345","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":12,"title":["Novel missense mutation in CLN8 in late infantile neuronal ceroid lipofuscinosis: The first report of a CLN8 mutation in Japan"],"prefix":"10.1016","volume":"38","author":[{"given":"Yu","family":"Katata","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9670-3744","authenticated-orcid":false,"given":"Mitsugu","family":"Uematsu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroki","family":"Sato","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sato","family":"Suzuki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tojo","family":"Nakayama","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuki","family":"Kubota","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomoko","family":"Kobayashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naomi","family":"Hino-Fukuyo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hirotomo","family":"Saitsu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shigeo","family":"Kure","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.braindev.2015.09.008_b0005","doi-asserted-by":"crossref","first-page":"1866","DOI":"10.1016\/j.bbadis.2013.01.019","article-title":"Cell biology and function of neuronal ceroid lipofuscinosis-related proteins","volume":"1832","author":"Kollmann","year":"2013","journal-title":"Biochim Bophys Acta"},{"key":"10.1016\/j.braindev.2015.09.008_b0010","doi-asserted-by":"crossref","first-page":"342","DOI":"10.1002\/ana.20187","article-title":"Impared cell adhesion and apotpsis in a novel CLN9 Batten disease variant","volume":"56","author":"Sculz","year":"2004","journal-title":"Ann Nurol"},{"key":"10.1016\/j.braindev.2015.09.008_b0015","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1111\/j.1750-3639.2000.tb00255.x","article-title":"Northern epilepsy: a novel form of neuronal ceroid-lipofuscinosis","volume":"10","author":"Herva","year":"2000","journal-title":"Brain Pathol"},{"key":"10.1016\/j.braindev.2015.09.008_b0020","doi-asserted-by":"crossref","first-page":"1104","DOI":"10.1002\/humu.21012","article-title":"A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function","volume":"30","author":"Vantaggiato","year":"2009","journal-title":"Hum Mutat"},{"key":"10.1016\/j.braindev.2015.09.008_b0025","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1111\/j.1399-0004.2009.01285.x","article-title":"Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis","volume":"77","author":"Reinhardt","year":"2010","journal-title":"Clin Genet"},{"key":"10.1016\/j.braindev.2015.09.008_b0030","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1016\/j.pediatrneurol.2012.05.016","article-title":"Phenotypic heterogeneity in consanguineous patients with a common CLN8 mutation","volume":"47","author":"Mahajnah","year":"2012","journal-title":"Pediatr Neurol"},{"key":"10.1016\/j.braindev.2015.09.008_b0035","doi-asserted-by":"crossref","first-page":"300","DOI":"10.1002\/humu.20018","article-title":"Variant late infantile ceroid lipofuscinosis in a subset of Turkish patients is allelic to northern epilepsy","volume":"23","author":"Ranta","year":"2004","journal-title":"Hum Mutat"},{"key":"10.1016\/j.braindev.2015.09.008_b0040","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1007\/s10048-005-0024-y","article-title":"Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: another genetic hit in the Mediterranean","volume":"7","author":"Canneli","year":"2006","journal-title":"Neurogenetics"},{"key":"10.1016\/j.braindev.2015.09.008_b0045","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1002\/humu.21624","article-title":"Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses","volume":"33","author":"Kousi","year":"2012","journal-title":"Hum Mutat"},{"key":"10.1016\/j.braindev.2015.09.008_b0050","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1016\/j.yebeh.2006.10.009","article-title":"Clinical and electrophysiological features of epilepsy in Italian patients with CLN8 mutations","volume":"10","author":"Striano","year":"2007","journal-title":"Epilepsy Behav"},{"key":"10.1016\/j.braindev.2015.09.008_b0055","doi-asserted-by":"crossref","first-page":"e109576","DOI":"10.1371\/journal.pone.0109576","article-title":"Exome sequencing is an efficient tool for variant late infantile neuronal ceroid lipofuscinosis molecular diagnosis","volume":"9","author":"Patino","year":"2014","journal-title":"PLoS ONE"}],"container-title":["Brain and Development"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0387760415002077?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0387760415002077?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,9,18]],"date-time":"2018-09-18T10:57:20Z","timestamp":1537268240000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0387760415002077"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,3]]},"references-count":11,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2016,3]]}},"alternative-id":["S0387760415002077"],"URL":"https:\/\/doi.org\/10.1016\/j.braindev.2015.09.008","relation":{},"ISSN":["0387-7604"],"issn-type":[{"value":"0387-7604","type":"print"}],"subject":[],"published":{"date-parts":[[2016,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Novel missense mutation in CLN8 in late infantile neuronal ceroid lipofuscinosis: The first report of a CLN8 mutation in Japan","name":"articletitle","label":"Article Title"},{"value":"Brain and Development","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.braindev.2015.09.008","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2015 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}