{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,17]],"date-time":"2025-12-17T23:02:55Z","timestamp":1766012575061,"version":"3.45.0"},"reference-count":7,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2021,1,1]],"date-time":"2021-01-01T00:00:00Z","timestamp":1609459200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2021,1,1]],"date-time":"2021-01-01T00:00:00Z","timestamp":1609459200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2020,11,9]],"date-time":"2020-11-09T00:00:00Z","timestamp":1604880000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100009619","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":[[2021]]},"DOI":"10.1016\/j.ebr.2020.100405","type":"journal-article","created":{"date-parts":[[2020,11,16]],"date-time":"2020-11-16T11:52:40Z","timestamp":1605527560000},"page":"100405","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":5,"special_numbering":"C","title":["A patient with a 6q22.1 deletion and a phenotype of non-progressive early-onset generalized epilepsy with tremor"],"prefix":"10.1016","volume":"15","author":[{"given":"Kazuhiro","family":"Haginoya","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Futoshi","family":"Sekiguchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9344-9952","authenticated-orcid":false,"given":"Mitsutoshi","family":"Munakata","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroyuki","family":"Yokoyama","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naomi","family":"Hino-Fukuyo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9670-3744","authenticated-orcid":false,"given":"Mitsugu","family":"Uematsu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazutaka","family":"Jin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenichi","family":"Nagamatsu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tadashi","family":"Ando","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Noriko","family":"Miyake","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naomichi","family":"Matsumoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shigeo","family":"Kure","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ebr.2020.100405_b0005","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1038\/ejhg.2014.75","article-title":"6q22.1 microdeletion and susceptibility to pediatric epilepsy","volume":"23","author":"Szafranski","year":"2015","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.ebr.2020.100405_b0010","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1007\/s10048-011-0306-5","article-title":"Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new cases","volume":"13","author":"Rosenfeld","year":"2012","journal-title":"Neurogenetics"},{"key":"10.1016\/j.ebr.2020.100405_b0015","doi-asserted-by":"crossref","first-page":"664","DOI":"10.1016\/j.ajhg.2017.09.008","article-title":"High rate of recurrent de novo mutations in developmental and epileptic encephalopathies","volume":"101","author":"Hamdan","year":"2017","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.ebr.2020.100405_b0020","doi-asserted-by":"crossref","first-page":"1173","DOI":"10.1038\/s10038-019-0667-4","article-title":"Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients","volume":"64","author":"Sekiguchi","year":"2019","journal-title":"J Hum Genet"},{"key":"10.1016\/j.ebr.2020.100405_b0025","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1016\/j.cmet.2014.06.016","article-title":"Mutation of Nogo-B receptor, a subunit of cis-prenyltransferase, causes a congenital disorder of glycosylation","volume":"20","author":"Park","year":"2014","journal-title":"Cell Metab"},{"key":"10.1016\/j.ebr.2020.100405_b0030","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1016\/j.seizure.2018.07.014","article-title":"Nationwide survey in Japan endorsed diagnostic criteria of benign adult familial myoclonus epilepsy","volume":"61","author":"Kobayashi","year":"2018","journal-title":"Seizure"},{"key":"10.1016\/j.ebr.2020.100405_b0035","doi-asserted-by":"crossref","DOI":"10.1007\/s13311-020-00899-2","article-title":"Managing essential tremor","author":"Hopfner","year":"2020","journal-title":"Neurotherapeutics"}],"container-title":["Epilepsy & Behavior Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2589986420300538?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2589986420300538?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,12]],"date-time":"2025-11-12T00:07:05Z","timestamp":1762906025000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2589986420300538"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021]]},"references-count":7,"alternative-id":["S2589986420300538"],"URL":"https:\/\/doi.org\/10.1016\/j.ebr.2020.100405","relation":{},"ISSN":["2589-9864"],"issn-type":[{"type":"print","value":"2589-9864"}],"subject":[],"published":{"date-parts":[[2021]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A patient with a 6q22.1 deletion and a phenotype of non-progressive early-onset generalized epilepsy with tremor","name":"articletitle","label":"Article Title"},{"value":"Epilepsy & Behavior Reports","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ebr.2020.100405","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 The Author(s). Published by Elsevier Inc.","name":"copyright","label":"Copyright"}],"article-number":"100405"}}