{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T15:40:53Z","timestamp":1791214853144,"version":"4.1.0"},"reference-count":14,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2013,6,12]],"date-time":"2013-06-12T00:00:00Z","timestamp":1370995200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Hum Genet"],"published-print":{"date-parts":[[2014,2]]},"DOI":"10.1038\/ejhg.2013.133","type":"journal-article","created":{"date-parts":[[2013,6,12]],"date-time":"2013-06-12T10:33:16Z","timestamp":1371033196000},"page":"270-272","source":"Crossref","is-referenced-by-count":15,"title":["Mutations in the C-terminus of CDKL5: proceed with caution"],"prefix":"10.1038","volume":"22","author":[{"given":"Bertrand","family":"Diebold","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chlo\u00e9","family":"Del\u00e9pine","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Svetlana","family":"Gataullina","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andr\u00e9e","family":"Delahaye","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juliette","family":"Nectoux","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thierry","family":"Bienvenu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2013,6,12]]},"reference":[{"key":"BFejhg2013133_CR1","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1159\/000331333","volume":"2","author":"N Bahi-Buisson","year":"2012","unstructured":"Bahi-Buisson N, Bienvenu T : CDKL5-related disorders: from clinical description to molecular genetics. Mol Syndromol 2012; 2: 137\u2013152.","journal-title":"Mol Syndromol"},{"key":"BFejhg2013133_CR2","doi-asserted-by":"publisher","first-page":"188","DOI":"10.1016\/j.ejpn.2009.03.006","volume":"14","author":"S Psoni","year":"2010","unstructured":"Psoni S, Willems PJ, Kanavakis E et al: A novel p.Arg970X mutation in the last exon of the CDKL5 gene resulting in late-onset seizure disorder. Eur J Paediatr Neurol 2010; 14: 188\u2013191.","journal-title":"Eur J Paediatr Neurol"},{"key":"BFejhg2013133_CR3","doi-asserted-by":"publisher","first-page":"432","DOI":"10.1016\/j.ejpn.2011.01.005","volume":"15","author":"U Intusoma","year":"2011","unstructured":"Intusoma U, Hayeeduereh F, Plong-On O et al: Mutation screening of the CDKL5 gene in cryptogenic infantile intractable epilepsy and review of clinical sensitivity. Eur J Paediatr Neurol 2011; 15: 432\u2013438.","journal-title":"Eur J Paediatr Neurol"},{"key":"BFejhg2013133_CR4","doi-asserted-by":"publisher","first-page":"3366","DOI":"10.1093\/hmg\/ddr243","volume":"20","author":"CP Schaaf","year":"2011","unstructured":"Schaaf CP, Sabo A, Sakai Y et al: Oligogenic heterozygosity in individuals with high- functioning autism spectrum disorders. Hum Mol Genet 2011; 20: 3366\u20133375.","journal-title":"Hum Mol Genet"},{"key":"BFejhg2013133_CR5","doi-asserted-by":"publisher","first-page":"187","DOI":"10.1007\/s00439-011-1058-x","volume":"131","author":"SL Williamson","year":"2012","unstructured":"Williamson SL, Giudici L, Kilstrup-Nielsen C et al: A novel transcript of cyclin-dependent kinase-like 5 (CDKL5) has an alternative C-terminus and is the predominant transcript in brain. Hum Genet 2012; 131: 187\u2013200.","journal-title":"Hum Genet"},{"key":"BFejhg2013133_CR6","doi-asserted-by":"publisher","first-page":"165","DOI":"10.1007\/s10048-011-0277-6","volume":"12","author":"N Rademacher","year":"2011","unstructured":"Rademacher N, Hambrock M, Fischer U et al: Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and Rett-like features. Neurogenetics 2011; 12: 165\u2013167.","journal-title":"Neurogenetics"},{"key":"BFejhg2013133_CR7","doi-asserted-by":"publisher","first-page":"52","DOI":"10.1038\/jhg.2010.143","volume":"56","author":"Y Fichou","year":"2011","unstructured":"Fichou Y, Nectoux J, Bahi-Buisson N, Chelly J, Bienvenu T : An isoform of the severe encephalopathy-related CDKL5 gene, including a novel exon with extremely high sequence conservation, is specifically expressed in brain. J Hum Genet 2011; 56: 52\u201357.","journal-title":"J Hum Genet"},{"key":"BFejhg2013133_CR8","doi-asserted-by":"publisher","first-page":"2647","DOI":"10.1093\/brain\/awn197","volume":"131","author":"N Bahi-Buisson","year":"2008","unstructured":"Bahi-Buisson N, Nectoux J, Rosas-Vargas H et al: Key clinical features to identify girls with CDKL5 mutations. Brain 2008; 131: 2647\u20132661.","journal-title":"Brain"},{"key":"BFejhg2013133_CR9","doi-asserted-by":"publisher","first-page":"29","DOI":"10.1111\/j.1399-0004.2006.00629.x","volume":"70","author":"J Nectoux","year":"2006","unstructured":"Nectoux J, Heron D, Tallot M, Chelly J, Bienvenu T : Maternal origin of a novel C-terminal truncation mutation in CDKL5 causing a severe atypical form of Rett syndrome. Clin Genet 2006; 70: 29\u201333.","journal-title":"Clin Genet"},{"key":"BFejhg2013133_CR10","doi-asserted-by":"publisher","first-page":"1401","DOI":"10.1086\/375538","volume":"72","author":"VM Kalscheuer","year":"2003","unstructured":"Kalscheuer VM, Tao J, Donnelly A et al: Disruption of the serine\/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation. Am J Hum Genet 2003; 72: 1401\u20131411.","journal-title":"Am J Hum Genet"},{"key":"BFejhg2013133_CR11","doi-asserted-by":"publisher","first-page":"30101","DOI":"10.1074\/jbc.M804613200","volume":"283","author":"L Rusconi","year":"2008","unstructured":"Rusconi L, Salvatoni L, Giudici L et al: CDKL5 expression is modulated during neuronal development and its subcellular distribution is tightly regulated by the C-terminal tail. J Biol Chem 2008; 283: 30101\u201330111.","journal-title":"J Biol Chem"},{"key":"BFejhg2013133_CR12","doi-asserted-by":"publisher","first-page":"218","DOI":"10.1007\/s12017-012-8212-z","volume":"15","author":"DK Das","year":"2012","unstructured":"Das DK, Mehta B, Menon SR, Raha S, Udani V : Novel mutations in cyclin-dependent kinase-like 5 (CDKL5) gene in Indian cases of Rett syndrome. Neuromol Med 2012; 15: 218\u2013225.","journal-title":"Neuromol Med"},{"key":"BFejhg2013133_CR13","doi-asserted-by":"publisher","first-page":"307","DOI":"10.1002\/1098-1004(200010)16:4<307::AID-HUMU3>3.0.CO;2-L","volume":"16","author":"L Huopaniemi","year":"2000","unstructured":"Huopaniemi L, Tyynismaa H, Rantala A, Rosenberg T, Alitalo T : Characterization of two unusual RS1 gene deletions segregating in Danish retinoschisis families. Hum Mutat 2000; 16: 307\u2013314.","journal-title":"Hum Mutat"},{"key":"BFejhg2013133_CR14","doi-asserted-by":"publisher","first-page":"103","DOI":"10.1136\/jmg.2004.026237","volume":"42","author":"E Scala","year":"2005","unstructured":"Scala E, Ariani F, Mari F et al: CDKL5\/STK9 is mutated in Rett syndrome variant with infantile spasms. J Med Genet 2005; 42: 103\u2013107.","journal-title":"J Med Genet"}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ejhg2013133.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg2013133","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg2013133.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,7,2]],"date-time":"2023-07-02T10:20:52Z","timestamp":1688293252000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ejhg2013133"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,6,12]]},"references-count":14,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2014,2]]}},"alternative-id":["BFejhg2013133"],"URL":"https:\/\/doi.org\/10.1038\/ejhg.2013.133","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,6,12]]}}}