{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,7]],"date-time":"2026-11-07T20:29:36Z","timestamp":1794083376503,"version":"4.8.0"},"reference-count":25,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2024,9,1]],"date-time":"2024-09-01T00:00:00Z","timestamp":1725148800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,9,1]],"date-time":"2024-09-01T00:00:00Z","timestamp":1725148800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2024,9,1]],"date-time":"2024-09-01T00:00:00Z","timestamp":1725148800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2024,9,1]],"date-time":"2024-09-01T00:00:00Z","timestamp":1725148800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2024,9,1]],"date-time":"2024-09-01T00:00:00Z","timestamp":1725148800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2024,9,1]],"date-time":"2024-09-01T00:00:00Z","timestamp":1725148800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2024,9,1]],"date-time":"2024-09-01T00:00:00Z","timestamp":1725148800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["clinicalkey.fr","clinicalkey.jp","clinicalkey.es","clinicalkey.com.au","clinicalkey.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Epilepsy Research"],"published-print":{"date-parts":[[2024,9]]},"DOI":"10.1016\/j.eplepsyres.2024.107399","type":"journal-article","created":{"date-parts":[[2024,7,6]],"date-time":"2024-07-06T12:20:14Z","timestamp":1720268414000},"page":"107399","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":4,"special_numbering":"C","title":["Evaluation of seizure semiology, genetics, magnetic resonance imaging, and electroencephalogram findings in children with Rett syndrome: A multicenter retrospective study"],"prefix":"10.1016","volume":"205","author":[{"given":"Nihal","family":"Y\u0131ld\u0131z","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esra","family":"Serdaro\u011flu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P\u0131nar \u00d6zkan","family":"Kart","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seyda","family":"Besen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seda","family":"Kanmaz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dilara Ece","family":"Toprak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Betul","family":"Kilic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ozlem","family":"Ersoy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P\u0131nar","family":"Gencpinar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nihal Olgac","family":"Dundar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cetin","family":"Okuyaz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ayse","family":"Serdaroglu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kursat Bora","family":"Carman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Co\u015fkun","family":"Yarar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bar\u0131\u015f","family":"Ekici","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Burak","family":"Tatl\u0131","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u0130lknur","family":"Erol","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K\u00fcr\u015fad","family":"Ayd\u0131n","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hasan","family":"Tekg\u00fcl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ali","family":"Cansu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.eplepsyres.2024.107399_bib1","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1038\/13810","article-title":"Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2","volume":"23","author":"Amir","year":"1999","journal-title":"Nat. Genet."},{"key":"10.1016\/j.eplepsyres.2024.107399_bib2","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1016\/j.ajhg.2008.05.015","article-title":"FOXG1 is responsible for the congenital variant of Rett syndrome","volume":"83","author":"Ariani","year":"2008","journal-title":"Am. J. Hum. Genet."},{"issue":"4","key":"10.1016\/j.eplepsyres.2024.107399_bib3","doi-asserted-by":"crossref","first-page":"441","DOI":"10.17219\/dmp\/99203","article-title":"Oral findings in Rett syndrome: an update and review of the literature","volume":"55","author":"Bianco","year":"2018","journal-title":"Dent. Med Probl."},{"key":"10.1016\/j.eplepsyres.2024.107399_bib4","series-title":"In: StatPearls [Internet","article-title":"Rett Syndrome. 2023 Aug 8","author":"Chahil","year":"2023"},{"issue":"5","key":"10.1016\/j.eplepsyres.2024.107399_bib5","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1016\/j.pediatrneurol.2012.11.001","article-title":"Rett syndrome and epilepsy: an update for child neurologists","volume":"48","author":"Dolce","year":"2013","journal-title":"Pediatr. Neurol."},{"key":"10.1016\/j.eplepsyres.2024.107399_bib6","doi-asserted-by":"crossref","first-page":"1113","DOI":"10.1038\/sj.ejhg.5201451","article-title":"Early onset seizures and Rett-like features associated with mutations in CDKL5","volume":"13","author":"Evans","year":"2005","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.eplepsyres.2024.107399_bib7","first-page":"79","article-title":"Motor abilities are related to specific genotypes in rett syndrome","volume":"Vol. 18","author":"Fabio","year":"2018"},{"key":"10.1016\/j.eplepsyres.2024.107399_bib8","doi-asserted-by":"crossref","first-page":"356","DOI":"10.1186\/s13023-022-02519-y","article-title":"Pain in Rett syndrome: a pilot study and a single case study on the assessment of pain and the construction of a suitable measuring scale","volume":"17","author":"Fabio","year":"2022","journal-title":"Orphanet J. Rare Dis."},{"issue":"11","key":"10.1016\/j.eplepsyres.2024.107399_bib9","doi-asserted-by":"crossref","first-page":"2976","DOI":"10.1016\/j.ridd.2014.07.031","article-title":"Recent insights into genotype-phenotype relationships in patients with Rett syndrome using a fine grain scale","volume":"35","author":"Fabio","year":"2014","journal-title":"Res Dev. Disabil."},{"issue":"5","key":"10.1016\/j.eplepsyres.2024.107399_bib10","doi-asserted-by":"crossref","first-page":"276","DOI":"10.3390\/brainsci10050276","article-title":"Effects of combined transcranial direct current stimulation with cognitive training in girls with Rett syndrome","volume":"10","author":"Fabio","year":"2020","journal-title":"Brain Sci."},{"key":"10.1016\/j.eplepsyres.2024.107399_bib11","doi-asserted-by":"crossref","first-page":"37","DOI":"10.3923\/ajcn.2018.37.46","article-title":"Long chain poly-unsaturated fatty acid supplementation in rett syndrome: a randomized placebo-controlled trial","volume":"10","author":"Fabio","year":"2018","journal-title":"Asian J. Clin. Nutr."},{"issue":"2","key":"10.1016\/j.eplepsyres.2024.107399_bib12","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1021\/acschemneuro.7b00346","article-title":"Rett syndrome: a genetic update and clinical review focusing on comorbidities","volume":"9","author":"Gold","year":"2018","journal-title":"ACS Chem. Neurosci."},{"key":"10.1016\/j.eplepsyres.2024.107399_bib13","doi-asserted-by":"crossref","DOI":"10.3389\/fneur.2022.838206","article-title":"Multimodal neuroimaging in Rett syndrome with MECP2 mutation","volume":"13","author":"Kong","year":"2022","journal-title":"Front. Neurol."},{"issue":"2","key":"10.1016\/j.eplepsyres.2024.107399_bib14","doi-asserted-by":"crossref","DOI":"10.1098\/rsob.170216","article-title":"Rett syndrome: a neurological disorder with metabolic components","volume":"8","author":"Kyle","year":"2018","journal-title":"Open Biol."},{"issue":"8","key":"10.1016\/j.eplepsyres.2024.107399_bib15","doi-asserted-by":"crossref","first-page":"906","DOI":"10.1111\/dmcn.14565","article-title":"Rehabilitation interventions in Rett syndrome: a scoping review","volume":"62","author":"Lim","year":"2020","journal-title":"Dev. Med. Child Neurol."},{"issue":"12","key":"10.1016\/j.eplepsyres.2024.107399_bib16","doi-asserted-by":"crossref","first-page":"1343","DOI":"10.1007\/s00439-016-1721-3","article-title":"Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype","volume":"135","author":"Lucariello","year":"2016","journal-title":"Hum. Genet"},{"key":"10.1016\/j.eplepsyres.2024.107399_bib17","doi-asserted-by":"crossref","unstructured":"Nadia, Bahi-Buisson, Nectoux, Juliette, Rosas-Vargas, Haydee, Milh, Mathieu, 2008. Nathalie Boddaert, Benoit Girard, Claude Cances, Dorothee Ville, Alexandra Afenjar, Marlene Rio, Delphine H\u00e9ron, Marie Ange N\u2032Guyen Morel, Alexis Arzimanoglou, Christophe Philippe, Philippe Jonveaux, Jamel Chelly, Thierry Bienvenu, Key clinical features to identify girls with CDKL5 mutations, Brain, Volume 131, Issue 10, October 2008, Pages 2647\u20132661..","DOI":"10.1093\/brain\/awn197"},{"key":"10.1016\/j.eplepsyres.2024.107399_bib18","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1016\/j.neubiorev.2019.07.005","article-title":"Can Rett syndrome be diagnosed before regression?","volume":"104","author":"Neul","year":"2019","journal-title":"Neurosci. Biobehav. Rev."},{"issue":"1","key":"10.1016\/j.eplepsyres.2024.107399_bib19","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1002\/ajmg.b.32707","article-title":"The array of clinical phenotypes of males with mutations in Methyl-CpG binding protein 2","volume":"180","author":"Neul","year":"2019","journal-title":"Am. J. Med. Genet. B Neuropsychiatr. Genet."},{"issue":"6","key":"10.1016\/j.eplepsyres.2024.107399_bib20","doi-asserted-by":"crossref","first-page":"944","DOI":"10.1002\/ana.22124","article-title":"Rett syndrome: revised diagnostic criteria and nomenclature","volume":"68","author":"Neul","year":"2010","journal-title":"Ann. Neurol."},{"issue":"1","key":"10.1016\/j.eplepsyres.2024.107399_bib21","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1186\/s13643-023-02169-6","article-title":"Global prevalence of Rett syndrome: systematic review and meta-analysis","volume":"12","author":"Petriti","year":"2023","journal-title":"Syst. Rev."},{"issue":"12","key":"10.1016\/j.eplepsyres.2024.107399_bib22","doi-asserted-by":"crossref","first-page":"1973","DOI":"10.3390\/jpm12121973","article-title":"Clinical EEG of Rett syndrome: group analysis supplemented with longitudinal case report","volume":"12","author":"Portnova","year":"2022","journal-title":"J. Pers. Med."},{"key":"10.1016\/j.eplepsyres.2024.107399_bib23","doi-asserted-by":"crossref","first-page":"3377","DOI":"10.1007\/s10803-015-2519-1","article-title":"Brief report: systematic review of Rett syndrome in males","volume":"45","author":"Reichow","year":"2015","journal-title":"J. Autism Dev. Disord."},{"key":"10.1016\/j.eplepsyres.2024.107399_bib24","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1111\/j.1651-2227.2001.tb00252.x","article-title":"Epilepsy in a representative series of Rett syndrome","volume":"90","author":"Steffenburg","year":"2001","journal-title":"Acta P\u00e6Diatr."},{"key":"10.1016\/j.eplepsyres.2024.107399_bib25","doi-asserted-by":"crossref","DOI":"10.3390\/genes14081607","article-title":"Multidisciplinary management of Rett syndrome: twenty years\u2019 experience","author":"Vilvarajan","year":"2023","journal-title":"Genes"}],"container-title":["Epilepsy Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0920121124001141?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0920121124001141?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,8,16]],"date-time":"2024-08-16T14:53:07Z","timestamp":1723819987000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0920121124001141"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,9]]},"references-count":25,"alternative-id":["S0920121124001141"],"URL":"https:\/\/doi.org\/10.1016\/j.eplepsyres.2024.107399","relation":{},"ISSN":["0920-1211"],"issn-type":[{"value":"0920-1211","type":"print"}],"subject":[],"published":{"date-parts":[[2024,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Evaluation of seizure semiology, genetics, magnetic resonance imaging, and electroencephalogram findings in children with Rett syndrome: A multicenter retrospective study","name":"articletitle","label":"Article Title"},{"value":"Epilepsy Research","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.eplepsyres.2024.107399","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2024 Elsevier B.V. All rights are reserved, including those for text and data mining, AI training, and similar technologies.","name":"copyright","label":"Copyright"}],"article-number":"107399"}}