{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,6]],"date-time":"2026-11-06T05:49:24Z","timestamp":1793944164500,"version":"4.8.0"},"reference-count":25,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2010,11,1]],"date-time":"2010-11-01T00:00:00Z","timestamp":1288569600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Epilepsy & Behavior"],"published-print":{"date-parts":[[2010,11]]},"DOI":"10.1016\/j.yebeh.2010.06.051","type":"journal-article","created":{"date-parts":[[2010,8,22]],"date-time":"2010-08-22T08:38:42Z","timestamp":1282466322000},"page":"296-300","source":"Crossref","is-referenced-by-count":74,"title":["Epilepsy in Rett syndrome: Clinical and genetic features"],"prefix":"10.1016","volume":"19","author":[{"given":"Maria","family":"Pintaudi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Grazia","family":"Calevo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aglaia","family":"Vignoli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Parodi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Aiello","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Giuseppina","family":"Baglietto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yussef","family":"Hayek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabrina","family":"Buoni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandra","family":"Renieri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Russo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Cogliati","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucio","family":"Giordano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"MariaPaola","family":"Canevini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edvige","family":"Veneselli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.yebeh.2010.06.051_bb0005","first-page":"S5","article-title":"Rett syndrome: epidemiology and geographical variability","volume":"6","author":"Hagberg","year":"1997","journal-title":"Eur Child Adolesc Psychiatry"},{"key":"10.1016\/j.yebeh.2010.06.051_bb0010","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1053\/ejpn.2002.0612","article-title":"An update on clinically applicable diagnostic criteria in Rett syndrome. Comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001","volume":"6","author":"Hagberg","year":"2002","journal-title":"Eur J Paediatr Neurol"},{"key":"10.1016\/j.yebeh.2010.06.051_bb0015","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.yebeh.2010.06.051_bb0020","doi-asserted-by":"crossref","first-page":"1377","DOI":"10.1093\/hmg\/9.9.1377","article-title":"MECP2 mutations account for most cases of typical forms of Rett syndrome","volume":"9","author":"Bienvenu","year":"2000","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.yebeh.2010.06.051_bb0025","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1136\/jmg.2004.026237","article-title":"CDKL5\/STK9 is mutated in Rett syndrome variant with infantile spasms","volume":"42","author":"Scala","year":"2005","journal-title":"J Med Genet"},{"key":"10.1016\/j.yebeh.2010.06.051_bb0030","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"},{"key":"10.1016\/j.yebeh.2010.06.051_bb0035","doi-asserted-by":"crossref","first-page":"542","DOI":"10.1016\/j.jpeds.2006.06.015","article-title":"Predictors of seizure onset in Rett syndrome","volume":"149","author":"Jian","year":"2006","journal-title":"J Pediatr"},{"key":"10.1016\/j.yebeh.2010.06.051_bb0040","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"},{"key":"10.1016\/j.yebeh.2010.06.051_bb0045","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"},{"key":"10.1016\/j.yebeh.2010.06.051_bb0050","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1016\/j.ejpn.2006.09.003","article-title":"Treatment of epilepsy in Rett syndrome","volume":"11","author":"Huppke","year":"2007","journal-title":"Eur J Paediatr Neurol"},{"key":"10.1016\/j.yebeh.2010.06.051_bb0055","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"},{"key":"10.1016\/j.yebeh.2010.06.051_bb0060","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"},{"key":"10.1016\/j.yebeh.2010.06.051_bb0065","doi-asserted-by":"crossref","first-page":"1242","DOI":"10.1212\/01.wnl.0000345664.72220.6a","article-title":"The common BDNF polymorphism may be a modifier of disease severity in Rett syndrome","volume":"72","author":"Zeev","year":"2009","journal-title":"Neurology"},{"key":"10.1016\/j.yebeh.2010.06.051_bb0070","doi-asserted-by":"crossref","first-page":"796","DOI":"10.1046\/j.1528-1157.2001.10401.x","article-title":"A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE Task Force on Classification and Terminology","volume":"42","author":"Engel","year":"2001","journal-title":"Epilepsia"},{"key":"10.1016\/j.yebeh.2010.06.051_bb0075","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1111\/j.1528-1167.2006.00440.x","article-title":"Defining intractability: comparisons among published definitions","volume":"47","author":"Berg","year":"2006","journal-title":"Epilepsia"},{"key":"10.1016\/j.yebeh.2010.06.051_bb0080","doi-asserted-by":"crossref","first-page":"2647","DOI":"10.1093\/brain\/awn197","article-title":"Key clinical features to identify girls with CDKL5 mutations","volume":"131","author":"Bahi-Buisson","year":"2008","journal-title":"Brain"},{"key":"10.1016\/j.yebeh.2010.06.051_bb0085","doi-asserted-by":"crossref","first-page":"1027","DOI":"10.1111\/j.1528-1167.2007.01520.x","article-title":"The three stages of epilepsy in patients with CDKL5 mutations","volume":"49","author":"Bahi-Buisson","year":"2008","journal-title":"Epilepsia"},{"key":"10.1016\/j.yebeh.2010.06.051_bb0090","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1016\/j.yebeh.2007.10.010","article-title":"Clinical and electroencephalographic features in patients with CDKL5 mutations: two new Italian cases and review of the literature","volume":"12","author":"Pintaudi","year":"2008","journal-title":"Epilepsy Behav"},{"key":"10.1016\/j.yebeh.2010.06.051_bb0095","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.yebeh.2010.06.051_bb0100","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"},{"key":"10.1016\/j.yebeh.2010.06.051_bb0105","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.yebeh.2010.06.051_bb0110","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"},{"key":"10.1016\/j.yebeh.2010.06.051_bb0115","doi-asserted-by":"crossref","first-page":"386","DOI":"10.1111\/j.1365-2788.2005.00786.x","article-title":"People with MECP2 mutation-positive Rett disorder who converse","volume":"50","author":"Kerr","year":"2006","journal-title":"J Intellect Disabil Res"},{"key":"10.1016\/j.yebeh.2010.06.051_bb0120","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1016\/j.braindev.2008.04.007","article-title":"Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant)","volume":"31","author":"Renieri","year":"2009","journal-title":"Brain Dev"},{"key":"10.1016\/j.yebeh.2010.06.051_bb0125","doi-asserted-by":"crossref","first-page":"2455","DOI":"10.1016\/j.clinph.2008.08.015","article-title":"Drug-resistant epilepsy and epileptic phenotype\u2013EEG association in MECP2 mutated Rett syndrome","volume":"119","author":"Buoni","year":"2008","journal-title":"Clin Neurophysiol"}],"container-title":["Epilepsy & Behavior"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1525505010004737?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1525505010004737?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,12,8]],"date-time":"2018-12-08T16:57:28Z","timestamp":1544288248000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1525505010004737"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,11]]},"references-count":25,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2010,11]]}},"alternative-id":["S1525505010004737"],"URL":"https:\/\/doi.org\/10.1016\/j.yebeh.2010.06.051","relation":{},"ISSN":["1525-5050"],"issn-type":[{"value":"1525-5050","type":"print"}],"subject":[],"published":{"date-parts":[[2010,11]]}}}