{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T00:45:59Z","timestamp":1789865159073,"version":"4.0.1"},"reference-count":13,"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\/"}],"content-domain":{"domain":["clinicalkey.jp","clinicalkey.com","ejpn-journal.com","clinicalkey.es","clinicalkey.com.au","clinicalkey.fr","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.2015.12.014","type":"journal-article","created":{"date-parts":[[2016,1,8]],"date-time":"2016-01-08T13:15:59Z","timestamp":1452258959000},"page":"489-492","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":40,"title":["Haploinsufficiency of the STX1B gene is associated with myoclonic astatic epilepsy"],"prefix":"10.1016","volume":"20","author":[{"given":"Danique R.M.","family":"Vlaskamp","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4059-0247","authenticated-orcid":false,"given":"Patrick","family":"Rump","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2447-7746","authenticated-orcid":false,"given":"Petra M.C.","family":"Callenbach","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yvonne J.","family":"Vos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Birgit","family":"Sikkema-Raddatz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Conny M.A.","family":"van Ravenswaaij-Arts","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oebele F.","family":"Brouwer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejpn.2015.12.014_bib1","doi-asserted-by":"crossref","first-page":"796","DOI":"10.1046\/j.1528-1157.2001.10401.x","article-title":"International League against Epilepsy (ILAE). 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.ejpn.2015.12.014_bib2","doi-asserted-by":"crossref","first-page":"1303","DOI":"10.1111\/j.1528-1167.2012.03581.x","article-title":"Dissecting the genetic basis of myoclonic-astatic epilepsy","volume":"53","author":"Tang","year":"2012","journal-title":"Epilepsia"},{"key":"10.1016\/j.ejpn.2015.12.014_bib3","doi-asserted-by":"crossref","first-page":"1327","DOI":"10.1038\/ng.3130","article-title":"Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes","volume":"46","author":"Schubert","year":"2014","journal-title":"Nat Genet"},{"key":"10.1016\/j.ejpn.2015.12.014_bib4","doi-asserted-by":"crossref","first-page":"4372","DOI":"10.1093\/emboj\/18.16.4372","article-title":"A conformational switch in syntaxin during exocytosis: role of munc18","volume":"18","author":"Dulubova","year":"1999","journal-title":"EMBO J"},{"key":"10.1016\/j.ejpn.2015.12.014_bib5","doi-asserted-by":"crossref","first-page":"631","DOI":"10.1038\/nrm2002","article-title":"SNAREs\u2013engines for membrane fusion","volume":"7","author":"Jahn","year":"2006","journal-title":"Nat Rev Mol Cell Biol"},{"key":"10.1016\/j.ejpn.2015.12.014_bib6","doi-asserted-by":"crossref","first-page":"2697","DOI":"10.1073\/pnas.0611318104","article-title":"Munc18-1 binds directly to the neuronal SNARE complex","volume":"104","author":"Dulubova","year":"2007","journal-title":"Proc Natl Acad Sci U. S. A"},{"key":"10.1016\/j.ejpn.2015.12.014_bib7","doi-asserted-by":"crossref","first-page":"1507","DOI":"10.1126\/science.1163174","article-title":"Conformational switch of syntaxin-1 controls synaptic vesicle fusion","volume":"321","author":"Gerber","year":"2008","journal-title":"Science"},{"key":"10.1016\/j.ejpn.2015.12.014_bib8","doi-asserted-by":"crossref","first-page":"782","DOI":"10.1038\/ng.150","article-title":"De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy","volume":"40","author":"Saitsu","year":"2008","journal-title":"Nat Genet"},{"key":"10.1016\/j.ejpn.2015.12.014_bib9","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1016\/j.cell.2010.02.042","article-title":"Syntaxin-4 defines a domain for activity-dependent exocytosis in dendritic spines","volume":"141","author":"Kennedy","year":"2010","journal-title":"Cell"},{"key":"10.1016\/j.ejpn.2015.12.014_bib10","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1016\/j.ejmg.2013.10.006","article-title":"Early epileptic encephalopathies associated with STXBP1 mutations: could we better delineate the phenotype?","volume":"57","author":"Barcia","year":"2014","journal-title":"Eur J Med Genet"},{"key":"10.1016\/j.ejpn.2015.12.014_bib11","doi-asserted-by":"crossref","first-page":"1245","DOI":"10.1212\/WNL.0000000000000291","article-title":"GABRA1 and STXBP1: novel genetic causes of Dravet syndrome","volume":"82","author":"Carvill","year":"2014","journal-title":"Neurology"},{"key":"10.1016\/j.ejpn.2015.12.014_bib12","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1016\/j.ejmg.2014.11.007","article-title":"Molecular characterization of a cohort of 73 patients with infantile spasms syndrome","volume":"58","author":"Boutry-Kryza","year":"2015","journal-title":"Eur J Med Genet"},{"key":"10.1016\/j.ejpn.2015.12.014_bib13","doi-asserted-by":"crossref","first-page":"808","DOI":"10.1016\/j.ajhg.2015.02.016","article-title":"Mutations in the GABA Transporter SLC6A1 cause epilepsy with myoclonic-atonic seizures","volume":"96","author":"Carvill","year":"2015","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:S1090379816000039?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1090379816000039?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,9,16]],"date-time":"2018-09-16T04:51:09Z","timestamp":1537073469000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1090379816000039"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,5]]},"references-count":13,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2016,5]]}},"alternative-id":["S1090379816000039"],"URL":"https:\/\/doi.org\/10.1016\/j.ejpn.2015.12.014","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":"Haploinsufficiency of the STX1B gene is associated with myoclonic astatic epilepsy","name":"articletitle","label":"Article Title"},{"value":"European Journal of Paediatric Neurology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejpn.2015.12.014","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"}]}}