{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T22:26:31Z","timestamp":1788387991461,"version":"build-2803163510"},"reference-count":18,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2013,2,19]],"date-time":"2013-02-19T00:00:00Z","timestamp":1361232000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Develop Med Child Neuro"],"published-print":{"date-parts":[[2013,6]]},"abstract":"<jats:sec><jats:title>Aim<\/jats:title><jats:p>The aim of this study was to identify characteristics of epilepsy in <jats:styled-content style=\"fixed-case\">R<\/jats:styled-content>ett syndrome (<jats:styled-content style=\"fixed-case\">RTT<\/jats:styled-content>), and relationships between epilepsy and genotype.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>Information on 685 females with <jats:styled-content style=\"fixed-case\">RTT<\/jats:styled-content> recruited to the international Rett syndrome database (InterRett) with a pathogenic <jats:italic><jats:styled-content style=\"fixed-case\">MECP2<\/jats:styled-content><\/jats:italic> mutation was obtained from family and clinician questionnaires. Individuals with <jats:styled-content style=\"fixed-case\">RTT<\/jats:styled-content> were aged 1\u00a0year 4\u00a0months to 54\u00a0years 2\u00a0months (mean 11y 1mo; <jats:styled-content style=\"fixed-case\">SD<\/jats:styled-content> 9y 4mo).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Among them, 61% had epilepsy, with half diagnosed by the age of 5\u00a0years. Those with a large deletion had the earliest median age at epilepsy onset and those with p.R133C the latest age at onset. The highest rate of active epilepsy (54%) was in those aged 12 to 17\u00a0years. Compared with those with a p.R133C mutation, active seizures were more likely to be reported in those with a large deletion (odds ratio 3.71; 95% confidence interval 1.13\u201312.17) or p.T158M (odds ratio 2.92; 95% confidence interval 1.04\u20138.20). Commonly used medicines included valproate (47%), carbamazepine (39%), lamotrigine (30%), levetiracetam (24%), and topiramate (19%).<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p>Genotype influences the age at onset and severity of epilepsy in <jats:styled-content style=\"fixed-case\">RTT<\/jats:styled-content>. Large sample sizes as available through InterRett assist in understanding the complexity of epilepsy in <jats:styled-content style=\"fixed-case\">RTT<\/jats:styled-content> in relation to genotype.<\/jats:p><\/jats:sec>","DOI":"10.1111\/dmcn.12093","type":"journal-article","created":{"date-parts":[[2013,2,19]],"date-time":"2013-02-19T19:12:45Z","timestamp":1361301165000},"page":"553-558","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":53,"title":["Using a large international sample to investigate epilepsy in <scp>R<\/scp>ett syndrome"],"prefix":"10.1111","volume":"55","author":[{"given":"Xinhua","family":"Bao","sequence":"first","affiliation":[{"name":"Department of Paediatrics Peking University First Hospital Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jenny","family":"Downs","sequence":"additional","affiliation":[{"name":"Centre for Child Health Research Telethon Institute for Child Health Research, University of Western Australia Perth WA Australia"},{"name":"School of Physiotherapy and Curtin Health Innovation Research Institute, Curtin University Perth WA Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kingsley","family":"Wong","sequence":"additional","affiliation":[{"name":"Centre for Child Health Research Telethon Institute for Child Health Research, University of Western Australia Perth WA Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simon","family":"Williams","sequence":"additional","affiliation":[{"name":"Department of Neurology Princess Margaret Hospital for Children Perth WA Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen","family":"Leonard","sequence":"additional","affiliation":[{"name":"Centre for Child Health Research Telethon Institute for Child Health Research, University of Western Australia Perth WA Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,2,19]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/13810"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.22124"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2006.06.015"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181d6b852"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2010.02597.x"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.yebeh.2010.06.051"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2007.02.008"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2007.07.002"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.rasd.2008.12.004"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2006.00440.x"},{"key":"e_1_2_8_12_1","unstructured":"HosmerDW LemeshowS.Applied Logistical Regression.2ndedn.New York:Wiley 2000."},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clinph.2010.01.003"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.seizure.2011.06.010"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.2001.tb00252.x"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.22115"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0013-4694(97)00084-9"},{"key":"e_1_2_8_18_1","first-page":"630","article-title":"Electrocephalogram characteristics in Rett syndrome","volume":"46","author":"Lu HM","year":"2008","journal-title":"Chin J Pediatr"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1177\/088307380401900804"}],"container-title":["Developmental Medicine &amp; 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