{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,17]],"date-time":"2025-12-17T08:46:10Z","timestamp":1765961170864},"reference-count":14,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2017,7,12]],"date-time":"2017-07-12T00:00:00Z","timestamp":1499817600000},"content-version":"vor","delay-in-days":41,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Epileptic Disorders"],"published-print":{"date-parts":[[2017,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The 8p23.1 deletion syndrome is a rare multisystem disorder with high penetrance and a variable phenotypic spectrum that includes congenital heart disease (CHD), intellectual disability, behavioural problems, microcephalia, and sometimes epilepsy. Genomic copy number variations (CNVs) constitute an important genetic risk factor for common genetic generalised epilepsy syndromes (GGEs) and absence seizures. These variations, resulting either from copy loss (microdeletion) or copy gain (duplications), disrupt genes associated with neuronal development. Herein, we report an epilepsy patient who was affected by developmental delay, microcephalia, behavioural problems, CHD, and childhood\u2010onset absence seizures. The patient had a 4\u2010Mb <jats:italic>de novo<\/jats:italic> microdeletion at 8p23.1. Some of the genes in this region, particularly <jats:italic>XKR6<\/jats:italic> and <jats:italic>MIR597<\/jats:italic>, may be involved in the pathogenesis of absence seizures, suggesting that epilepsy may possibly be part of the phenotypic spectrum of the syndrome rather than a comorbid disorder. Thus, CNV screening for GGE plus patients may have important implications in clinical practice with regards to diagnostic classification, clinical management of the syndromic multisystem disorders, and, potentially, genetic counselling.<\/jats:p>","DOI":"10.1684\/epd.2017.0906","type":"journal-article","created":{"date-parts":[[2019,8,2]],"date-time":"2019-08-02T13:24:29Z","timestamp":1564752269000},"page":"217-221","source":"Crossref","is-referenced-by-count":9,"title":["<i>De novo<\/i> 8p23.1 deletion in a patient with absence epilepsy"],"prefix":"10.1002","volume":"19","author":[{"given":"Nihan Hande","family":"Akcakaya","sequence":"first","affiliation":[{"name":"Aziz Sancar Institute of Experimental Medicine \u2010 Genetics Istanbul"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00d6zlem Yalcin","family":"Capan","sequence":"additional","affiliation":[{"name":"Bogazici University \u2010 Department of Biology and Genetics Istanbul"},{"name":"Arel University\u2010Department of Molecular Biology and Genetics Istanbul"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Herbert","family":"Schulz","sequence":"additional","affiliation":[{"name":"University of Cologne \u2010 Cologne Center for Genomics Cologne Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Sander","sequence":"additional","affiliation":[{"name":"University of Cologne \u2010 Cologne Center for Genomics Cologne Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Server Hande","family":"Caglayan","sequence":"additional","affiliation":[{"name":"Bogazici University \u2010 Department of Biology and Genetics Istanbul"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zuhal","family":"Yap\u0131c\u0131","sequence":"additional","affiliation":[{"name":"Istanbul University Istanbul Faculty of Medicine \u2010 Department of Neurology Istanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,7,12]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000056"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2010.10.003"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970919)74:5<515::AID-AJMG12>3.0.CO;2-F"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00282178"},{"issue":"3","key":"e_1_2_6_6_1","first-page":"656","article-title":"Management of childhood epilepsy","volume":"19","author":"Glauser T.A.","year":"2013","journal-title":"Continuum"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.yebeh.2009.06.007"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00018-012-0992-7"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1005226"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1157.1995.tb01060.x"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20874"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000001971"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.2000.6296"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M114.583419"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddl174"}],"container-title":["Epileptic Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1684\/epd.2017.0906","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,18]],"date-time":"2024-03-18T16:11:16Z","timestamp":1710778276000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1684\/epd.2017.0906"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,6]]},"references-count":14,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2017,6]]}},"alternative-id":["10.1684\/epd.2017.0906"],"URL":"https:\/\/doi.org\/10.1684\/epd.2017.0906","archive":["Portico"],"relation":{},"ISSN":["1294-9361","1950-6945"],"issn-type":[{"value":"1294-9361","type":"print"},{"value":"1950-6945","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,6]]}}}