{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,22]],"date-time":"2026-04-22T22:09:49Z","timestamp":1776895789933,"version":"3.51.2"},"reference-count":19,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2022,4,22]],"date-time":"2022-04-22T00:00:00Z","timestamp":1650585600000},"content-version":"vor","delay-in-days":111,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP20ek0109486"],"award-info":[{"award-number":["JP20ek0109486"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP21cm0106503"],"award-info":[{"award-number":["JP21cm0106503"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP21ek0109493"],"award-info":[{"award-number":["JP21ek0109493"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP21ek0109549"],"award-info":[{"award-number":["JP21ek0109549"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["JP20K07907"],"award-info":[{"award-number":["JP20K07907"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["JP20K17428"],"award-info":[{"award-number":["JP20K17428"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003837","name":"Ichiro Kanehara Foundation for the Promotion of Medical Sciences and Medical Care","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003837","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004053","name":"Masato Kawano Memorial Public Interest Foundation for Promotion of Pediatrics","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004053","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Epilepsy & Behavior Reports"],"published-print":{"date-parts":[[2022]]},"DOI":"10.1016\/j.ebr.2022.100547","type":"journal-article","created":{"date-parts":[[2022,4,25]],"date-time":"2022-04-25T20:37:44Z","timestamp":1650919064000},"page":"100547","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":4,"special_numbering":"C","title":["Long-term course of early onset developmental and epileptic encephalopathy associated with 2q24.3 microduplication"],"prefix":"10.1016","volume":"19","author":[{"given":"Takuya","family":"Masuda","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hitoshi","family":"Osaka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naomi","family":"Tsuchida","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Satoko","family":"Miyatake","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kou","family":"Nishimura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toshiki","family":"Takenouchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takao","family":"Takahashi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naomichi","family":"Matsumoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takanori","family":"Yamagata","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ebr.2022.100547_b0005","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1016\/j.pediatrneurol.2012.06.002","article-title":"Early-onset epileptic encephalopathies: ohtahara syndrome and early myoclonic encephalopathy","volume":"47","author":"Beal","year":"2012","journal-title":"Pediatr Neurol"},{"key":"10.1016\/j.ebr.2022.100547_b0010","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1016\/j.pediatrneurol.2018.06.002","article-title":"Rapid diagnosis of KCNQ2-Associated early infantile epileptic encephalopathy improved outcome","volume":"86","author":"Chen","year":"2018","journal-title":"Pediatr Neurol"},{"key":"10.1016\/j.ebr.2022.100547_b0015","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1111\/epi.13709","article-title":"ILAE classification of the epilepsies: position paper of the ILAE commission for classification and terminology","volume":"58","author":"Scheffer","year":"2017","journal-title":"Epilepsia"},{"key":"10.1016\/j.ebr.2022.100547_b0020","doi-asserted-by":"crossref","DOI":"10.1016\/j.spen.2019.08.006","article-title":"Neonatal developmental and epileptic encephalopathies","volume":"32","author":"El Kosseifi","year":"2019","journal-title":"Semin Pediatr Neurol"},{"issue":"7","key":"10.1016\/j.ebr.2022.100547_b0025","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"},{"issue":"5","key":"10.1016\/j.ebr.2022.100547_b0030","doi-asserted-by":"crossref","first-page":"1062","DOI":"10.1111\/epi.14074","article-title":"Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders","volume":"59","author":"Lindy","year":"2018","journal-title":"Epilepsia"},{"key":"10.1016\/j.ebr.2022.100547_b0035","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1016\/j.pediatrneurol.2016.10.008","article-title":"Infantile epileptic encephalopathy associated with SCN2A mutation responsive to oral mexiletine","volume":"66","author":"Foster","year":"2017","journal-title":"Pediatr Neurol"},{"key":"10.1016\/j.ebr.2022.100547_b0040","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1016\/j.eplepsyres.2014.10.008","article-title":"Epilepsy phenotype associated with a chromosome 2q24.3 deletion involving SCN1A: Migrating partial seizures of infancy or atypical Dravet syndrome?","volume":"109","author":"Lim","year":"2015","journal-title":"Epilepsy Res"},{"key":"10.1016\/j.ebr.2022.100547_b0045","doi-asserted-by":"crossref","first-page":"2128","DOI":"10.1111\/j.1528-1167.2012.03676.x","article-title":"Duplication of the sodium channel gene cluster on 2q24 in children with early onset epilepsy","volume":"53","author":"Goeggel Simonetti","year":"2012","journal-title":"Epilepsia"},{"issue":"10","key":"10.1016\/j.ebr.2022.100547_b0050","doi-asserted-by":"crossref","first-page":"813","DOI":"10.1016\/j.seizure.2011.07.008","article-title":"Infantile epilepsy associated with mosaic 2q24 duplication including SCN2A and SCN3A","volume":"20","author":"Vecchi","year":"2011","journal-title":"Seizure"},{"issue":"5","key":"10.1016\/j.ebr.2022.100547_b0055","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1038\/s10038-020-00869-8","article-title":"Whole exome sequencing of fetal structural anomalies detected by ultrasonography","volume":"66","author":"Aoi","year":"2021","journal-title":"J Hum Genet"},{"issue":"9","key":"10.1016\/j.ebr.2022.100547_b0060","doi-asserted-by":"crossref","first-page":"874","DOI":"10.1016\/j.braindev.2015.03.001","article-title":"Three patients manifesting early infantile epileptic spasms associated with 2q24.3 microduplications","volume":"37","author":"Yoshitomi","year":"2015","journal-title":"Brain Dev"},{"key":"10.1016\/j.ebr.2022.100547_b0065","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1016\/j.pediatrneurol.2015.12.013","article-title":"Pyridoxine-dependent epilepsy: an expanding clinical spectrum","volume":"59","author":"van Karnebeek","year":"2016","journal-title":"Pediatr Neurol"},{"key":"10.1016\/j.ebr.2022.100547_b0070","doi-asserted-by":"crossref","first-page":"e1","DOI":"10.1111\/epi.16408","article-title":"Diagnosis of pyridoxine-dependent epilepsy in an adult presenting with recurrent status epilepticus","volume":"61","author":"Osman","year":"2020","journal-title":"Epilepsia"},{"key":"10.1016\/j.ebr.2022.100547_b0075","doi-asserted-by":"crossref","first-page":"442","DOI":"10.1016\/j.braindev.2014.07.008","article-title":"Seizure recurrence following pyridoxine withdrawal in a patient with pyridoxine-dependent epilepsy","volume":"37","author":"Tamaura","year":"2015","journal-title":"Brain Dev"},{"issue":"6","key":"10.1016\/j.ebr.2022.100547_b0080","doi-asserted-by":"crossref","first-page":"647","DOI":"10.1016\/j.ejpn.2015.08.001","article-title":"Long-term outcome in pyridoxine-responsive infantile epilepsy","volume":"19","author":"Riikonen","year":"2015","journal-title":"Eur J Paediatr Neurol"},{"issue":"3","key":"10.1016\/j.ebr.2022.100547_b0085","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1111\/cge.13144","article-title":"Detection of copy number variations in epilepsy using exome data","volume":"93","author":"Tsuchida","year":"2018","journal-title":"Clin Genet"},{"key":"10.1016\/j.ebr.2022.100547_b0090","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1002\/humu.24129","article-title":"Efficient detection of copy-number variations using exome data: Batch- and sex-based analyses","volume":"42","author":"Uchiyama","year":"2021","journal-title":"Hum Mutat"},{"key":"10.1016\/j.ebr.2022.100547_b0095","doi-asserted-by":"crossref","first-page":"184","DOI":"10.1186\/1471-2164-12-184","article-title":"Accurate and exact CNV identification from targeted high-throughput sequence data","volume":"12","author":"Nord","year":"2011","journal-title":"BMC Genomics"}],"container-title":["Epilepsy & Behavior Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2589986422000247?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2589986422000247?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,12]],"date-time":"2025-11-12T00:06:59Z","timestamp":1762906019000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2589986422000247"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022]]},"references-count":19,"alternative-id":["S2589986422000247"],"URL":"https:\/\/doi.org\/10.1016\/j.ebr.2022.100547","relation":{},"ISSN":["2589-9864"],"issn-type":[{"value":"2589-9864","type":"print"}],"subject":[],"published":{"date-parts":[[2022]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Long-term course of early onset developmental and epileptic encephalopathy associated with 2q24.3 microduplication","name":"articletitle","label":"Article Title"},{"value":"Epilepsy & Behavior Reports","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ebr.2022.100547","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2022 The Author(s). Published by Elsevier Inc.","name":"copyright","label":"Copyright"}],"article-number":"100547"}}