{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T11:10:47Z","timestamp":1790161847315,"version":"4.1.0"},"reference-count":14,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2016,5,1]],"date-time":"2016-05-01T00:00:00Z","timestamp":1462060800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2016,5,1]],"date-time":"2016-05-01T00:00:00Z","timestamp":1462060800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2017,4,4]],"date-time":"2017-04-04T00:00:00Z","timestamp":1491264000000},"content-version":"am","delay-in-days":338,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/501100003478","name":"Ministry of Health, Labour and Welfare of Japan","doi-asserted-by":"publisher","award":["25293085"],"award-info":[{"award-number":["25293085"]}],"id":[{"id":"10.13039\/501100003478","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003478","name":"Ministry of Health, Labour and Welfare of Japan","doi-asserted-by":"publisher","award":["13313587"],"award-info":[{"award-number":["13313587"]}],"id":[{"id":"10.13039\/501100003478","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["26670505"],"award-info":[{"award-number":["26670505"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007449","name":"Takeda Science Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007449","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002241","name":"Japan Science and Technology Agency","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002241","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Strategic Research Program for Brain Sciences","award":["11105137"],"award-info":[{"award-number":["11105137"]}]},{"name":"Ministry of Education, Culture, Sports, Science and Technology of Japan","award":["12024421"],"award-info":[{"award-number":["12024421"]}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","ejpn-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Paediatric Neurology"],"published-print":{"date-parts":[[2016,5]]},"DOI":"10.1016\/j.ejpn.2016.02.012","type":"journal-article","created":{"date-parts":[[2016,3,2]],"date-time":"2016-03-02T01:16:06Z","timestamp":1456881366000},"page":"412-417","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":31,"title":["RARS2 mutations cause early onset epileptic encephalopathy without ponto-cerebellar hypoplasia"],"prefix":"10.1016","volume":"20","author":[{"given":"Daniella","family":"Nishri","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hadassa","family":"Goldberg-Stern","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iris","family":"Noyman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lubov","family":"Blumkin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Kivity","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hirotomo","family":"Saitsu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mitsuko","family":"Nakashima","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naomichi","family":"Matsumoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esther","family":"Leshinsky-Silver","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tally","family":"Lerman-Sagie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dorit","family":"Lev","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"7","key":"10.1016\/j.ejpn.2016.02.012_bib1","doi-asserted-by":"crossref","first-page":"934","DOI":"10.1016\/j.jocn.2012.01.017","article-title":"A genetic diagnostic approach to infantile epileptic encephalopathies","volume":"19","author":"Kamien","year":"2012","journal-title":"J Clin Neurosci"},{"issue":"7","key":"10.1016\/j.ejpn.2016.02.012_bib2","doi-asserted-by":"crossref","first-page":"1270","DOI":"10.1111\/epi.12201","article-title":"Exome sequencing reveals new causal mutations in children with epileptic encephalopathies","volume":"54","author":"Veeramah","year":"2013","journal-title":"Epilepsia"},{"key":"10.1016\/j.ejpn.2016.02.012_bib3","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1038\/ng.2562","article-title":"De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood","volume":"45","author":"Saitsu","year":"2013","journal-title":"Nat Genet"},{"key":"10.1016\/j.ejpn.2016.02.012_bib4","doi-asserted-by":"crossref","first-page":"857","DOI":"10.1086\/521227","article-title":"Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia","volume":"81","author":"Edvardson","year":"2007","journal-title":"Am J Hum Genet"},{"issue":"12","key":"10.1016\/j.ejpn.2016.02.012_bib5","doi-asserted-by":"crossref","first-page":"1004","DOI":"10.1136\/archdischild-2013-304308","article-title":"Subdural effusions and lack of early pontocerebellar hypoplasia in siblings with RARS2 mutations","volume":"98","author":"Kastrissianakis","year":"2013","journal-title":"Arch Dis Child"},{"issue":"1","key":"10.1016\/j.ejpn.2016.02.012_bib6","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1007\/s10545-012-9487-9","article-title":"Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients","volume":"36","author":"Cassandrini","year":"2013","journal-title":"J Inherit Metab Dis"},{"issue":"3","key":"10.1016\/j.ejpn.2016.02.012_bib7","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1007\/s10545-011-9413-6","article-title":"Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2","volume":"35","author":"Glamuzina","year":"2012","journal-title":"J Inherit Metab Dis"},{"issue":"8","key":"10.1016\/j.ejpn.2016.02.012_bib8","doi-asserted-by":"crossref","first-page":"2079","DOI":"10.1002\/ajmg.a.33531","article-title":"Pontocerebellar hypoplasia type 6: a British case with PEHO-like features","volume":"152A","author":"Rankin","year":"2010","journal-title":"Am J Med Genet A"},{"issue":"Pt 1","key":"10.1016\/j.ejpn.2016.02.012_bib9","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1093\/brain\/awq287","article-title":"Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia","volume":"134","author":"Namavar","year":"2011","journal-title":"Brain"},{"issue":"11","key":"10.1016\/j.ejpn.2016.02.012_bib10","doi-asserted-by":"crossref","first-page":"1009","DOI":"10.1097\/NEN.0000000000000123","article-title":"Neuropathologic features of pontocerebellar hypoplasia type 6","volume":"73","author":"Joseph","year":"2014","journal-title":"J Neuropathol Exp Neurol"},{"issue":"5","key":"10.1016\/j.ejpn.2016.02.012_bib11","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1111\/j.1469-8749.2011.04214.x","article-title":"Mitochondrial disease and epilepsy","volume":"54","author":"Rahman","year":"2012","journal-title":"Dev Med Child Neurol"},{"key":"10.1016\/j.ejpn.2016.02.012_bib12","doi-asserted-by":"crossref","DOI":"10.1155\/2014\/787956","article-title":"The mitochondrial aminoacyl tRNA synthetases: genes and syndromes","volume":"2014","author":"Diodato","year":"2014","journal-title":"Int J Cell Biol"},{"issue":"20","key":"10.1016\/j.ejpn.2016.02.012_bib13","doi-asserted-by":"crossref","first-page":"4521","DOI":"10.1093\/hmg\/dds294","article-title":"Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy","volume":"21","author":"Elo","year":"2012","journal-title":"Hum Mol Genet"},{"issue":"4","key":"10.1016\/j.ejpn.2016.02.012_bib14","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1016\/j.ajhg.2014.03.003","article-title":"Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures","volume":"94","author":"Zhang","year":"2014","journal-title":"Am J Hum Genet"}],"container-title":["European Journal of Paediatric Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1090379816000453?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1090379816000453?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T18:34:44Z","timestamp":1761071684000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1090379816000453"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,5]]},"references-count":14,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2016,5]]}},"alternative-id":["S1090379816000453"],"URL":"https:\/\/doi.org\/10.1016\/j.ejpn.2016.02.012","relation":{},"ISSN":["1090-3798"],"issn-type":[{"value":"1090-3798","type":"print"}],"subject":[],"published":{"date-parts":[[2016,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"RARS2 mutations cause early onset epileptic encephalopathy without ponto-cerebellar hypoplasia","name":"articletitle","label":"Article Title"},{"value":"European Journal of Paediatric Neurology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejpn.2016.02.012","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2016 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.","name":"copyright","label":"Copyright"}]}}