{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,8]],"date-time":"2025-10-08T20:10:19Z","timestamp":1759954219218,"version":"build-2065373602"},"reference-count":9,"publisher":"Elsevier BV","issue":"8","license":[{"start":{"date-parts":[[2012,9,1]],"date-time":"2012-09-01T00:00:00Z","timestamp":1346457600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2012,9,1]],"date-time":"2012-09-01T00:00:00Z","timestamp":1346457600000},"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":[[2012,9]]},"DOI":"10.1016\/j.braindev.2011.11.005","type":"journal-article","created":{"date-parts":[[2011,12,29]],"date-time":"2011-12-29T15:04:54Z","timestamp":1325171094000},"page":"617-619","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"title":["On the likelihood of SCN1A microdeletions or duplications in Dravet syndrome with missense mutation"],"prefix":"10.1016","volume":"34","author":[{"given":"Xiuyu","family":"Shi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiwen","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hirokazu","family":"Kurahashi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Atsushi","family":"Ishii","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Norimichi","family":"Higurashi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sunao","family":"Kaneko","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shinichi","family":"Hirose","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.braindev.2011.11.005_b0005","doi-asserted-by":"crossref","first-page":"796","DOI":"10.1046\/j.1528-1157.2001.10401.x","article-title":"A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE Task Force on Classification and Terminology","volume":"42","author":"Engel","year":"2001","journal-title":"Epilepsia"},{"key":"10.1016\/j.braindev.2011.11.005_b0010","series-title":"Epileptic syndromes in infancy, childhood and adolescence","first-page":"75","article-title":"Severe myoclonic epilepsy in infants","author":"Dravet","year":"1992"},{"key":"10.1016\/j.braindev.2011.11.005_b0015","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1038\/74159","article-title":"Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2","volume":"24","author":"Escayg","year":"2000","journal-title":"Nat Genet"},{"key":"10.1016\/j.braindev.2011.11.005_b0020","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1111\/j.0013-9580.2004.15103.x","article-title":"Mutations of neuronal voltage-gated Na+ channel \u03b1 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB)","volume":"45","author":"Fukuma","year":"2004","journal-title":"Epilepsia"},{"key":"10.1016\/j.braindev.2011.11.005_b0025","doi-asserted-by":"crossref","first-page":"1670","DOI":"10.1111\/j.1528-1167.2009.02013.x","article-title":"SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis","volume":"50","author":"Marini","year":"2009","journal-title":"Epilepsia"},{"key":"10.1016\/j.braindev.2011.11.005_b0030","doi-asserted-by":"crossref","first-page":"1528","DOI":"10.1111\/j.1528-1167.2008.01609.x","article-title":"Microchromosomal deletions involving SCN1A and adjacent genes in severe myoclonic epilepsy in infancy","volume":"49","author":"Wang","year":"2008","journal-title":"Epilepsia"},{"key":"10.1016\/j.braindev.2011.11.005_b0035","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1212\/01.WNL.0000129829.31179.5B","article-title":"Effect of localization of missense mutations in SCN1A on epilepsy phenotype severity","volume":"63","author":"Kanai","year":"2004","journal-title":"Neurology"},{"key":"10.1016\/j.braindev.2011.11.005_b0040","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1136\/jmg.2008.062323","article-title":"Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients","volume":"46","author":"Depienne","year":"2009","journal-title":"J Med Genet"},{"key":"10.1016\/j.braindev.2011.11.005_b0045","doi-asserted-by":"crossref","first-page":"e1000649","DOI":"10.1371\/journal.pgen.1000649","article-title":"A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome","volume":"5","author":"Singh","year":"2009","journal-title":"PLoS Genet"}],"container-title":["Brain and Development"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0387760411003305?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0387760411003305?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,8]],"date-time":"2025-10-08T19:47:10Z","timestamp":1759952830000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0387760411003305"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,9]]},"references-count":9,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2012,9]]}},"alternative-id":["S0387760411003305"],"URL":"https:\/\/doi.org\/10.1016\/j.braindev.2011.11.005","relation":{},"ISSN":["0387-7604"],"issn-type":[{"type":"print","value":"0387-7604"}],"subject":[],"published":{"date-parts":[[2012,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"On the likelihood of SCN1A microdeletions or duplications in Dravet syndrome with missense mutation","name":"articletitle","label":"Article Title"},{"value":"Brain and Development","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.braindev.2011.11.005","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2011 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}