{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T15:40:42Z","timestamp":1791214842727,"version":"4.1.0"},"reference-count":16,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2010,3,1]],"date-time":"2010-03-01T00:00:00Z","timestamp":1267401600000},"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":["European Journal of Paediatric Neurology"],"published-print":{"date-parts":[[2010,3]]},"DOI":"10.1016\/j.ejpn.2009.03.006","type":"journal-article","created":{"date-parts":[[2009,5,10]],"date-time":"2009-05-10T05:17:46Z","timestamp":1241932666000},"page":"188-191","source":"Crossref","is-referenced-by-count":24,"title":["A novel p.Arg970X mutation in the last exon of the CDKL5 gene resulting in late-onset seizure disorder"],"prefix":"10.1016","volume":"14","author":[{"given":"Stavroula","family":"Psoni","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick J.","family":"Willems","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuel","family":"Kanavakis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ariadne","family":"Mavrou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen","family":"Frissyra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joanne","family":"Traeger-Synodinos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christalena","family":"Sofokleous","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Periklis","family":"Makrythanassis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophia","family":"Kitsiou-Tzeli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejpn.2009.03.006_bib1","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1006\/geno.1998.5391","article-title":"Identification and characterization of a novel serine\u2013threonine kinase gene from the Xp22 region","volume":"51","author":"Montini","year":"1998","journal-title":"Genomics"},{"key":"10.1016\/j.ejpn.2009.03.006_bib2","doi-asserted-by":"crossref","first-page":"1401","DOI":"10.1086\/375538","article-title":"Disruption of the serine\/threonine kinase 9 gene causes severe X-Linked infantile spasms and mental retardation","volume":"72","author":"Kalscheuer","year":"2003","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.ejpn.2009.03.006_bib3","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.ejpn.2009.03.006_bib4","doi-asserted-by":"crossref","first-page":"3775","DOI":"10.1093\/hmg\/ddi391","article-title":"CDKL5\/Stk9 kinase inactivation is associated with neuronal developmental disorders","volume":"14","author":"Lin","year":"2005","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.ejpn.2009.03.006_bib5","doi-asserted-by":"crossref","first-page":"729","DOI":"10.1136\/jmg.2006.041467","article-title":"CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients","volume":"43","author":"Archer","year":"2006","journal-title":"J Med Genet"},{"key":"10.1016\/j.ejpn.2009.03.006_bib6","doi-asserted-by":"crossref","first-page":"320","DOI":"10.1016\/S0387-7604(85)80037-1","article-title":"The clinical pattern of the Rett syndrome","volume":"7","author":"Hanefeld","year":"1985","journal-title":"Brain Dev"},{"key":"10.1016\/j.ejpn.2009.03.006_bib7","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1038\/ng862","article-title":"Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy","volume":"30","author":"Stromme","year":"2002","journal-title":"Nat Genet"},{"key":"10.1016\/j.ejpn.2009.03.006_bib8","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.ejpn.2009.03.006_bib9","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.ejpn.2009.03.006_bib10","doi-asserted-by":"crossref","first-page":"1149","DOI":"10.1086\/426460","article-title":"Mutations in the X-linked Cyclin-Dependent Kinase-like 5 (CDKL5\/STK9) gene are associated with severe neurodevelopmental retardation","volume":"75","author":"Tao","year":"2004","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.ejpn.2009.03.006_bib11","doi-asserted-by":"crossref","first-page":"1079","DOI":"10.1086\/426462","article-title":"Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation","volume":"75","author":"Weaving","year":"2004","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.ejpn.2009.03.006_bib12","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1016\/j.ejpn.2006.12.007","article-title":"Coinheritance of mutated SMN1 and MECP2 genes in a child with phenotypic features of spinal muscular atrophy (SMA) type II and Rett syndrome","volume":"1","author":"Voutoufianakis","year":"2007","journal-title":"Eur J Paediatr Neurol"},{"key":"10.1016\/j.ejpn.2009.03.006_bib13","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.ejpn.2009.03.006_bib14","doi-asserted-by":"crossref","first-page":"2647","DOI":"10.1093\/brain\/awn197","article-title":"Key clinical features to identify girls with CDKL5 mutations","volume":"138","author":"Bahi-Buisson","year":"2008","journal-title":"Brain"},{"key":"10.1016\/j.ejpn.2009.03.006_bib15","doi-asserted-by":"crossref","first-page":"1935","DOI":"10.1093\/hmg\/ddi198","article-title":"CDKL5 belongs to the same molecular pathway of MeCP2 and it non-specific for the early-onset seizure variant of Rett Syndrome","volume":"14","author":"Mari","year":"2005","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.ejpn.2009.03.006_bib16","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"}],"container-title":["European Journal of Paediatric Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1090379809000622?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1090379809000622?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,12,19]],"date-time":"2018-12-19T19:58:36Z","timestamp":1545249516000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1090379809000622"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,3]]},"references-count":16,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2010,3]]}},"alternative-id":["S1090379809000622"],"URL":"https:\/\/doi.org\/10.1016\/j.ejpn.2009.03.006","relation":{},"ISSN":["1090-3798"],"issn-type":[{"value":"1090-3798","type":"print"}],"subject":[],"published":{"date-parts":[[2010,3]]}}}