{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,27]],"date-time":"2026-06-27T19:33:12Z","timestamp":1782588792886,"version":"3.54.5"},"reference-count":40,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2015,11,1]],"date-time":"2015-11-01T00:00:00Z","timestamp":1446336000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2015,11,1]],"date-time":"2015-11-01T00:00:00Z","timestamp":1446336000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2016,11,1]],"date-time":"2016-11-01T00:00:00Z","timestamp":1477958400000},"content-version":"vor","delay-in-days":366,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","seizure-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Seizure"],"published-print":{"date-parts":[[2015,11]]},"DOI":"10.1016\/j.seizure.2015.09.013","type":"journal-article","created":{"date-parts":[[2015,9,29]],"date-time":"2015-09-29T17:57:23Z","timestamp":1443549443000},"page":"78-83","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":24,"special_numbering":"C","title":["Epilepsy and chromosome 18 abnormalities: A review"],"prefix":"10.1016","volume":"32","author":[{"given":"Alberto","family":"Verrotti","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessia","family":"Carelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorenza","family":"di Genova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pasquale","family":"Striano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.seizure.2015.09.013_bib0205","doi-asserted-by":"crossref","first-page":"911","DOI":"10.1016\/j.cll.2010.07.008","article-title":"Advances on the genetics of Mendelian idiopathic epilepsies","volume":"30","author":"Baulac","year":"2010","journal-title":"Clin Lab Med"},{"key":"10.1016\/j.seizure.2015.09.013_bib0210","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1038\/nrneurol.2010.92","article-title":"Genetic evaluation and counselling for epilepsy","volume":"6","author":"Pal","year":"2010","journal-title":"Nat Rev Neurol"},{"issue":"Suppl 1","key":"10.1016\/j.seizure.2015.09.013_bib0215","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1046\/j.1528-1157.2001.00508.x","article-title":"Chromosome abnormalities and epilepsy","volume":"42","author":"Elia","year":"2001","journal-title":"Epilepsia"},{"key":"10.1016\/j.seizure.2015.09.013_bib0220","doi-asserted-by":"crossref","first-page":"F38","DOI":"10.1136\/fn.75.1.F38","article-title":"Natural history of trisomy 18","volume":"75","author":"Embleton","year":"1996","journal-title":"Arch Dis Child Fetal Neonatal Ed"},{"key":"10.1016\/j.seizure.2015.09.013_bib0225","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1186\/1750-1172-7-81","article-title":"The trisomy 18 syndrome","volume":"7","author":"Cereda","year":"2012","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.seizure.2015.09.013_bib0230","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1002\/(SICI)1096-8628(20000515)92:2<101::AID-AJMG4>3.0.CO;2-U","article-title":"Mosaic rearrangement of chromosome 18: characterization by FISH mapping and DNA studies shows trisomy 18p and monosomy 18p both of paternal origin","volume":"92","author":"Oner","year":"2000","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.seizure.2015.09.013_bib0235","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1002\/ajmg.a.30575","article-title":"Chromosome 18 aberrations and epilepsy: a review","volume":"134A","author":"Grosso","year":"2005","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.seizure.2015.09.013_bib0240","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1002\/ajmg.a.31588","article-title":"Duplication 18q21.31-q22.2","volume":"143","author":"Ceccarini","year":"2007","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.seizure.2015.09.013_bib0245","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1016\/j.ejmg.2011.02.004","article-title":"De novo mosaic ring chromosome 18 in a child with mental retardation, epilepsy and immunological problems","volume":"54","author":"Lo-Castro","year":"2011","journal-title":"Eur J Med Genet"},{"key":"10.1016\/j.seizure.2015.09.013_bib0250","doi-asserted-by":"crossref","first-page":"676","DOI":"10.1111\/j.1528-1167.2010.02522.x","article-title":"Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005\u20132009","volume":"51","author":"Berg","year":"2010","journal-title":"Epilepsia"},{"key":"10.1016\/j.seizure.2015.09.013_bib0255","first-page":"453","article-title":"Infantile spasms in a patient with 18p monosomy","volume":"23","author":"Vaquerizo","year":"1995","journal-title":"Rev Neurol"},{"key":"10.1016\/j.seizure.2015.09.013_bib0260","doi-asserted-by":"crossref","first-page":"1813","DOI":"10.1111\/j.1528-1167.2008.01662.x","article-title":"Epilepsy and deletion syndromes of chromosome 18: do not forget the short arm!","volume":"49","author":"Cerminara","year":"2008","journal-title":"Epilepsia"},{"key":"10.1016\/j.seizure.2015.09.013_bib0265","first-page":"470","article-title":"A case of 18q syndrome associated with status epilepticus","volume":"21","author":"Kanazawa","year":"1989","journal-title":"No To Hattatsu"},{"key":"10.1016\/j.seizure.2015.09.013_bib0270","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1136\/jmg.28.5.352","article-title":"Interstitial deletion of the long arm of chromosome 18, del (18)(q12 2q21. 1): a report of three cases of an autosomal deletion with a mild phenotype","volume":"28","author":"Schinzel","year":"1991","journal-title":"J Med Genet"},{"key":"10.1016\/j.seizure.2015.09.013_bib0275","doi-asserted-by":"crossref","first-page":"348","DOI":"10.1002\/(SICI)1096-8628(19990212)82:4<348::AID-AJMG14>3.0.CO;2-2","article-title":"Monosomy 18q syndrome and atypical Rett syndrome in a girl with an interstitial deletion (18)(q21.1q22.3)","volume":"82","author":"Gustavsson P1","year":"1999","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.seizure.2015.09.013_bib0280","doi-asserted-by":"crossref","first-page":"1039","DOI":"10.1111\/j.1528-1157.2000.tb00291.x","article-title":"Autonomic seizures versus syncope in 18q- deletion syndrome: a case report","volume":"41","author":"Sturm","year":"2000","journal-title":"Epilepsia"},{"key":"10.1016\/j.seizure.2015.09.013_bib0285","doi-asserted-by":"crossref","first-page":"362","DOI":"10.1007\/s00381-003-0847-5","article-title":"Benign focal epilepsy with onset in infancy in a patient with 18q- syndrome","volume":"20","author":"Verrotti","year":"2004","journal-title":"Child Nerv Syst"},{"key":"10.1016\/j.seizure.2015.09.013_bib0290","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1016\/j.braindev.2003.09.016","article-title":"Autonomic seizures in 18q- syndrome","volume":"27","author":"Stephenson","year":"2005","journal-title":"Brain Dev"},{"key":"10.1016\/j.seizure.2015.09.013_bib0295","first-page":"521","article-title":"Intractable epilepsy (apneic seizure) in an infant with 18q deletion syndrome","volume":"35","author":"Ito","year":"2003","journal-title":"No To Hattatsu"},{"key":"10.1016\/j.seizure.2015.09.013_bib0300","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1007\/s00415-005-0009-7","article-title":"Adult-onset seizure disorder in the 18q deletion syndrome","volume":"253","author":"Adab","year":"2006","journal-title":"J Neurol"},{"key":"10.1016\/j.seizure.2015.09.013_bib0305","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1016\/j.ajhg.2011.07.006","article-title":"Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitors","volume":"89","author":"Poulton","year":"2011","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.seizure.2015.09.013_bib0310","doi-asserted-by":"crossref","first-page":"420","DOI":"10.1016\/j.ejmg.2013.05.006","article-title":"Genotype\u2013phenotype analysis of 18q12.1-q12.2 copy number variation in autism","volume":"56","author":"Wang","year":"2013","journal-title":"Eur J Med Genet"},{"key":"10.1016\/j.seizure.2015.09.013_bib0315","first-page":"165","article-title":"Ring chromosome 18 in a child with febrile seizures","volume":"22","author":"Celep","year":"2011","journal-title":"Genet Couns"},{"key":"10.1016\/j.seizure.2015.09.013_bib0320","first-page":"221","article-title":"De novo translocation (2;18)(q21;q22) in a child with severe epilepsy, developmental delay and mild dysmorphism","volume":"11","author":"Bal","year":"2000","journal-title":"Genet Couns"},{"key":"10.1016\/j.seizure.2015.09.013_bib0325","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1016\/S0003-3995(01)01085-1","article-title":"18p deletion syndrome with a 45, XY, t (14; 18) (p11;q11.2), -18, karyotype","volume":"44","author":"Rao","year":"2001","journal-title":"Ann Genet"},{"key":"10.1016\/j.seizure.2015.09.013_bib0330","first-page":"365","article-title":"A rare unbalanced translocation 1;18 in a child with epilepsy, mild dysmorphology and mental retardation","volume":"64","author":"Vecchio","year":"2012","journal-title":"Minerva Pediatr"},{"key":"10.1016\/j.seizure.2015.09.013_bib0335","doi-asserted-by":"crossref","first-page":"370","DOI":"10.1016\/j.braindev.2004.04.012","article-title":"An analysis of epilepsy with chromosomal abnormalities","volume":"27","author":"Yamanouchi","year":"2005","journal-title":"Brain Dev"},{"key":"10.1016\/j.seizure.2015.09.013_bib0340","doi-asserted-by":"crossref","first-page":"1194","DOI":"10.1002\/ajmg.a.35859","article-title":"Partial trisomy 18q and epileptic spasms induced by eating associated with bilateral opercular dysplasia","volume":"161A","author":"D\u2019Orsi","year":"2013","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.seizure.2015.09.013_bib0345","doi-asserted-by":"crossref","first-page":"1531","DOI":"10.1002\/ajmg.a.35990","article-title":"Natural history and parental experience of children with trisomy 18 based on a questionnaire given to a Japanese trisomy 18 parental support group","volume":"161A","author":"Kosho","year":"2013","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.seizure.2015.09.013_bib0350","doi-asserted-by":"crossref","first-page":"3148","DOI":"10.1002\/ajmg.a.36743","article-title":"Severe Epilepsy in an adult with partial trisomy 18q","volume":"164A","author":"Del Gaudio","year":"2014","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.seizure.2015.09.013_bib0355","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1002\/ajmg.a.36205","article-title":"A case of trisomy 18 with exacerbation of seizures triggered by administration of valproic acid","volume":"164A","author":"Kobayashi","year":"2014","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.seizure.2015.09.013_bib0360","doi-asserted-by":"crossref","first-page":"696","DOI":"10.1002\/ajmg.a.35763","article-title":"Epilepsy in children with trisomy 18","volume":"161A","author":"Kumada","year":"2013","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.seizure.2015.09.013_bib0365","doi-asserted-by":"crossref","first-page":"194","DOI":"10.1177\/088307388700200304","article-title":"The brain in partial trisomy 18: a case report","volume":"2","author":"Novotny","year":"1987","journal-title":"J Child Neurol"},{"key":"10.1016\/j.seizure.2015.09.013_bib0370","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1016\/j.pediatrneurol.2009.08.004","article-title":"Epileptic apnea in a trisomy 18 infant","volume":"42","author":"Kumada","year":"2010","journal-title":"Pediatr Neurol"},{"key":"10.1016\/j.seizure.2015.09.013_bib0375","doi-asserted-by":"crossref","first-page":"871","DOI":"10.1002\/ajmg.1320290418","article-title":"Duplication 18p with mild influence on the phenotype","volume":"29","author":"Johansson","year":"1988","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.seizure.2015.09.013_bib0380","doi-asserted-by":"crossref","first-page":"1806","DOI":"10.1002\/ajmg.a.35986","article-title":"Complete and pure trisomy 18p due to a complex chromosomal rearrangement in a male adult with mild intellectual disability","volume":"161A","author":"Orendi","year":"2013","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.seizure.2015.09.013_bib0385","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1016\/0169-328X(96)00055-1","article-title":"Two synaptotagmin genes Syt1 and Syt4, are differentially regulated in adult brain and during postnatal development following kainic acid-induced seizures","volume":"40","author":"Tocco","year":"1996","journal-title":"Brain Res Mol Brain Res"},{"key":"10.1016\/j.seizure.2015.09.013_bib0390","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1007\/s10048-009-0228-7","article-title":"Novel variants identified in methyl-CpG-binding domain genes in autistic individuals","volume":"11","author":"Cukier","year":"2010","journal-title":"Neurogenetics"},{"key":"10.1016\/j.seizure.2015.09.013_bib0395","doi-asserted-by":"crossref","first-page":"1676","DOI":"10.1002\/humu.22160","article-title":"Functional analysis of TCF4 missense mutations that cause Pitt-Hopkins syndrome","volume":"33","author":"Forrest","year":"2012","journal-title":"Hum Mutat"},{"key":"10.1016\/j.seizure.2015.09.013_bib0400","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1038\/nature12439","article-title":"De novo mutations in epileptic encephalopathies","volume":"501","author":"Allen","year":"2013","journal-title":"Nature"}],"container-title":["Seizure"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1059131115002277?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1059131115002277?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T01:46:54Z","timestamp":1761011214000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1059131115002277"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,11]]},"references-count":40,"alternative-id":["S1059131115002277"],"URL":"https:\/\/doi.org\/10.1016\/j.seizure.2015.09.013","relation":{},"ISSN":["1059-1311"],"issn-type":[{"value":"1059-1311","type":"print"}],"subject":[],"published":{"date-parts":[[2015,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Epilepsy and chromosome 18 abnormalities: A review","name":"articletitle","label":"Article Title"},{"value":"Seizure","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.seizure.2015.09.013","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2015 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.","name":"copyright","label":"Copyright"}]}}