{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T12:47:32Z","timestamp":1788871652314,"version":"build-2803163510"},"reference-count":30,"publisher":"Elsevier BV","issue":"8","license":[{"start":{"date-parts":[[2011,10,1]],"date-time":"2011-10-01T00:00:00Z","timestamp":1317427200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2011,10,1]],"date-time":"2011-10-01T00:00:00Z","timestamp":1317427200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2013,8,22]],"date-time":"2013-08-22T00:00:00Z","timestamp":1377129600000},"content-version":"vor","delay-in-days":691,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"name":"Rett UK"}],"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":[[2011,10]]},"DOI":"10.1016\/j.seizure.2011.06.010","type":"journal-article","created":{"date-parts":[[2011,7,23]],"date-time":"2011-07-23T20:54:48Z","timestamp":1311454488000},"page":"646-649","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":52,"title":["Epilepsy in Rett syndrome: Association between phenotype and genotype, and implications for practice"],"prefix":"10.1016","volume":"20","author":[{"given":"Basil","family":"Cardoza","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angus","family":"Clarke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jodie","family":"Wilcox","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frances","family":"Gibbon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Phil E.M.","family":"Smith","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hayley","family":"Archer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Hryniewiecka-Jaworska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mike","family":"Kerr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.seizure.2011.06.010_bib0005","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","volume":"23","author":"Amir","year":"1999","journal-title":"Nat Genet"},{"key":"10.1016\/j.seizure.2011.06.010_bib0010","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1136\/adc.65.10.1133","article-title":"Survey of adolescents with severe intellectual handicap","volume":"65","author":"Asthana","year":"1990","journal-title":"Arch Dis Child"},{"key":"10.1016\/j.seizure.2011.06.010_bib0015","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1016\/S0387-7604(12)80173-2","article-title":"A study of Rett syndrome in the GDR","volume":"12","author":"Kultz","year":"1990","journal-title":"Brain Dev"},{"key":"10.1016\/j.seizure.2011.06.010_bib0020","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1055\/s-2007-979725","article-title":"Early clinical signs in the Rett disorder","volume":"26","author":"Kerr","year":"1995","journal-title":"Neuropaediatrics"},{"key":"10.1016\/j.seizure.2011.06.010_bib0025","first-page":"275","article-title":"Rett syndrome: a comprehensive review of the literature","volume":"96","author":"Perry","year":"1991","journal-title":"Am J Ment Retard"},{"key":"10.1016\/j.seizure.2011.06.010_bib0030","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1016\/S1090-3798(98)80028-7","article-title":"Rett syndrome: critical examination of clinical features, serial EEG and video-monitoring in understanding the management","volume":"2","author":"Cooper","year":"1998","journal-title":"Eur J Paediatr Neurol"},{"issue":"3","key":"10.1016\/j.seizure.2011.06.010_bib0035","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1016\/S1090-3798(98)80028-7","article-title":"Rett syndrome: critical examination of clinical features, serial EEG and video-monitoring in understanding and management","volume":"2","author":"Cooper","year":"1998","journal-title":"Eur J Paediatr Neurol"},{"key":"10.1016\/j.seizure.2011.06.010_bib0040","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/0013-4694(89)90025-4","article-title":"EEG development in Rett syndrome. A study of 30 cases","volume":"72","author":"Hagne","year":"1989","journal-title":"Electroencephalogr Clin Neurophysiol"},{"key":"10.1016\/j.seizure.2011.06.010_bib0045","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 Paediatr"},{"key":"10.1016\/j.seizure.2011.06.010_bib0050","series-title":"Learning disability and epilepsy: an integrative approach","first-page":"47","article-title":"Aetiology of epilepsy and learning disorders: specific epilepsy syndromes; genetic chromosomal and sporadic syndromes","author":"Appleton","year":"2003"},{"issue":"11","key":"10.1016\/j.seizure.2011.06.010_bib0055","doi-asserted-by":"crossref","first-page":"2455","DOI":"10.1016\/j.clinph.2008.08.015","article-title":"Drug-resistant epilepsy and epileptic phenotype-EEG association in MECP2 mutated Rett syndrome","volume":"119","author":"Buoni","year":"2008","journal-title":"Clin Neurophysiol"},{"issue":"1","key":"10.1016\/j.seizure.2011.06.010_bib0060","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1016\/j.braindev.2009.02.004","article-title":"Early-onset seizure variant of Rett syndrome: definition of the clinical diagnostic criteria","volume":"32","author":"Artuso","year":"2010","journal-title":"Brain Dev"},{"issue":"5","key":"10.1016\/j.seizure.2011.06.010_bib0065","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1016\/j.ejpn.2007.02.008","article-title":"Seizures in Rett syndrome: an overview from a one-year calendar study","volume":"11","author":"Jian","year":"2007","journal-title":"Eur J Paediatr Neurol"},{"issue":"11","key":"10.1016\/j.seizure.2011.06.010_bib0070","doi-asserted-by":"crossref","first-page":"909","DOI":"10.1212\/WNL.0b013e3181d6b852","article-title":"Epilepsy and the natural history of Rett syndrome","volume":"74","author":"Glaze","year":"2010","journal-title":"Neurology"},{"issue":"7","key":"10.1016\/j.seizure.2011.06.010_bib0075","doi-asserted-by":"crossref","first-page":"1252","DOI":"10.1111\/j.1528-1167.2010.02597.x","article-title":"Epilepsy in Rett syndrome\u2014the experience of a National Rett Center","volume":"51","author":"Nissenkorn","year":"2010","journal-title":"Epilepsia"},{"issue":"22 Part 2 of 2","key":"10.1016\/j.seizure.2011.06.010_bib0080","doi-asserted-by":"crossref","first-page":"2145","DOI":"10.1212\/01.wnl.0000304086.75913.b2","article-title":"The p.Val66Met polymorphism in the BDNF gene protects against early seizures in Rett syndrome","volume":"70","author":"Nectoux","year":"2008","journal-title":"Neurology"},{"issue":"4","key":"10.1016\/j.seizure.2011.06.010_bib0085","doi-asserted-by":"crossref","first-page":"542","DOI":"10.1016\/j.jpeds.2006.06.015","article-title":"Predictors of seizures in Rett syndrome","volume":"149","author":"Jian","year":"2006","journal-title":"J Pediatr"},{"issue":"3","key":"10.1016\/j.seizure.2011.06.010_bib0090","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1016\/j.yebeh.2010.06.051","article-title":"Epilepsy in Rett syndrome: Clinical and genetic features","volume":"19","author":"Pintaudi","year":"2010","journal-title":"Epilepsy Behav"},{"issue":"4","key":"10.1016\/j.seizure.2011.06.010_bib0095","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1007\/s10048-009-0195-z","article-title":"Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder","volume":"10","author":"Erez","year":"2009","journal-title":"Neurogenetics"},{"issue":"3","key":"10.1016\/j.seizure.2011.06.010_bib0100","doi-asserted-by":"crossref","first-page":"172","DOI":"10.1136\/jmg.2007.053504","article-title":"Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy","volume":"45","author":"Rosas-Vargas","year":"2008","journal-title":"J Med Genet"},{"issue":"16","key":"10.1016\/j.seizure.2011.06.010_bib0105","doi-asserted-by":"crossref","first-page":"1313","DOI":"10.1212\/01.wnl.0000291011.54508.aa","article-title":"Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome","volume":"70","author":"Neul","year":"2008","journal-title":"Neurology"},{"issue":"11","key":"10.1016\/j.seizure.2011.06.010_bib0110","doi-asserted-by":"crossref","first-page":"868","DOI":"10.1212\/01.wnl.0000304752.50773.ec","article-title":"Investigating genotype\u2013phenotype relationships in Rett syndrome using an international data set","volume":"70","author":"Bebbington","year":"2008","journal-title":"Neurology"},{"issue":"2","key":"10.1016\/j.seizure.2011.06.010_bib0115","doi-asserted-by":"crossref","first-page":"260","DOI":"10.1016\/j.yebeh.2009.03.033","article-title":"Myoclonic status misdiagnosed as movement disorders in Rett syndrome: a video-polygraphic study","volume":"15","author":"d\u2019Orsi","year":"2009","journal-title":"Epilepsy Behav"},{"issue":"2","key":"10.1016\/j.seizure.2011.06.010_bib0120","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1016\/j.pediatrneurol.2006.10.003","article-title":"Rett syndrome: clinical and electrophysiologic aspects","volume":"36","author":"Moser","year":"2007","journal-title":"Pediatr Neurol"},{"issue":"2","key":"10.1016\/j.seizure.2011.06.010_bib0125","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1002\/mrdd.10024","article-title":"Neurophysiology of Rett syndrome","volume":"8","author":"Glaze","year":"2002","journal-title":"Ment Retard Dev Disabil Res Rev"},{"issue":"2","key":"10.1016\/j.seizure.2011.06.010_bib0130","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1016\/j.braindev.2007.07.002","article-title":"Parental view of epilepsy in Rett syndrome","volume":"30","author":"Bahi-Buisson","year":"2008","journal-title":"Brain Dev"},{"issue":"1","key":"10.1016\/j.seizure.2011.06.010_bib0135","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1016\/S0013-4694(97)00084-9","article-title":"Rett syndrome: characterization of seizures versus non-seizures","volume":"106","author":"Glaze","year":"1998","journal-title":"Electroencephalogr Clin Neurophysiol"},{"key":"10.1016\/j.seizure.2011.06.010_bib0140","doi-asserted-by":"crossref","first-page":"1981","DOI":"10.1016\/S0140-6736(08)60849-1","article-title":"Cardiorespiratory challenges in Rett's syndrome","volume":"14","author":"Julu","year":"2008","journal-title":"Lancet"},{"key":"10.1016\/j.seizure.2011.06.010_bib0145","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1016\/S0387-7604(85)80039-5","article-title":"Abnormal breathing in the Rett syndrome","volume":"7","author":"Lugaresi","year":"1985","journal-title":"Brain Dev"},{"key":"10.1016\/j.seizure.2011.06.010_bib0150","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1136\/adc.85.1.29","article-title":"Characterisation of breathing and associated central autonomic dysfunction in the Rett disorder","volume":"84","author":"Julu","year":"2001","journal-title":"Arch Dis Child"}],"container-title":["Seizure"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1059131111001695?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1059131111001695?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T01:40:34Z","timestamp":1761010834000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1059131111001695"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,10]]},"references-count":30,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2011,10]]}},"alternative-id":["S1059131111001695"],"URL":"https:\/\/doi.org\/10.1016\/j.seizure.2011.06.010","relation":{},"ISSN":["1059-1311"],"issn-type":[{"value":"1059-1311","type":"print"}],"subject":[],"published":{"date-parts":[[2011,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Epilepsy in Rett syndrome: Association between phenotype and genotype, and implications for practice","name":"articletitle","label":"Article Title"},{"value":"Seizure","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.seizure.2011.06.010","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2011 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.","name":"copyright","label":"Copyright"}]}}