{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,4]],"date-time":"2026-04-04T12:44:18Z","timestamp":1775306658307,"version":"3.50.1"},"reference-count":32,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2014,2,25]],"date-time":"2014-02-25T00:00:00Z","timestamp":1393286400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Med Genet"],"published-print":{"date-parts":[[2014,12]]},"DOI":"10.1186\/1471-2350-15-24","type":"journal-article","created":{"date-parts":[[2014,2,25]],"date-time":"2014-02-25T02:21:01Z","timestamp":1393294861000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":36,"title":["Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients"],"prefix":"10.1186","volume":"15","author":[{"given":"Ying","family":"Zhao","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaoying","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xinhua","family":"Bao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qingping","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jingjing","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guangna","family":"Cao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jie","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiarui","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liping","family":"Wei","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hong","family":"Pan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiru","family":"Wu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2014,2,25]]},"reference":[{"issue":"1","key":"1178_CR1","doi-asserted-by":"publisher","first-page":"17","DOI":"10.1016\/j.braindev.2009.02.004","volume":"32","author":"R Artuso","year":"2010","unstructured":"Artuso R, Mencarelli MA, Polli R, Sartori S, Ariani F, Pollazzon M, Marozza A, Cilio MR, Specchio N, Vigevano F, Vecchi M, Boniver C, Dalla Bernardina B, Parmeggiani A, Buoni S, Hayek G, Mari F, Renieri A, Murgia A: Early-onset seizure variant of Rett syndrome: definition of the clinical diagnostic criteria. Brain Dev. 2010, 32 (1): 17-24. 10.1016\/j.braindev.2009.02.004.","journal-title":"Brain Dev"},{"issue":"2","key":"1178_CR2","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, Caselli R, Pescucci C, Longo I, Meloni I, Giachino D, Bruttini M, Hayek G, Zappella M, Renieri A: CDKL5\/STK9 is mutated in Rett syndrome variant with infantile spasms. J Med Genet. 2005, 42 (2): 103-107. 10.1136\/jmg.2004.026237.","journal-title":"J Med Genet"},{"issue":"10","key":"1178_CR3","doi-asserted-by":"publisher","first-page":"1113","DOI":"10.1038\/sj.ejhg.5201451","volume":"13","author":"JC Evans","year":"2005","unstructured":"Evans JC, Archer HL, Colley JP, Ravn K, Nielsen JB, Kerr A, Williams E, Christodoulou J, Gecz J, Jardine PE, Wright MJ, Pilz DT, Lazarou L, Cooper DN, Sampson JR, Butler R, Whatley SD, Clarke AJ: Early onset seizures and Rett-like features associated with mutations in CDKL5. Eur J Hum Genet. 2005, 13 (10): 1113-1120. 10.1038\/sj.ejhg.5201451.","journal-title":"Eur J Hum Genet"},{"issue":"9","key":"1178_CR4","doi-asserted-by":"publisher","first-page":"729","DOI":"10.1136\/jmg.2006.041467","volume":"43","author":"HL Archer","year":"2006","unstructured":"Archer HL, Evans J, Edwards S, Colley J, Newbury-Ecob R, O\u2019Callaghan F, Huyton M, O\u2019Regan M, Tolmie J, Sampson J, Clarke A, Osborne J: CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients. J Med Genet. 2006, 43 (9): 729-734. 10.1136\/jmg.2006.041467.","journal-title":"J Med Genet"},{"issue":"3","key":"1178_CR5","doi-asserted-by":"publisher","first-page":"172","DOI":"10.1136\/jmg.2007.053504","volume":"45","author":"H Rosas-Vargas","year":"2008","unstructured":"Rosas-Vargas H, Bahi-Buisson N, Philippe C, Nectoux J, Girard B, N\u2019Guyen Morel MA, Gitiaux C, Lazaro L, Odent S, Jonveaux P, Chelly J, Bienvenu T: Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy. J Med Genet. 2008, 45 (3): 172-178.","journal-title":"J Med Genet"},{"issue":"4","key":"1178_CR6","doi-asserted-by":"publisher","first-page":"357","DOI":"10.1111\/j.1399-0004.2009.01194.x","volume":"76","author":"C Nemos","year":"2009","unstructured":"Nemos C, Lambert L, Giuliano F, Doray B, Roubertie A, Goldenberg A, Delobel B, Layet V, N\u2019Guyen MA, Saunier A, Verneau F, Jonveaux P, Philippe C: Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature. Clin Genet. 2009, 76 (4): 357-371. 10.1111\/j.1399-0004.2009.01194.x.","journal-title":"Clin Genet"},{"key":"1178_CR7","doi-asserted-by":"publisher","first-page":"68","DOI":"10.1186\/1471-2350-13-68","volume":"13","author":"H Maortua","year":"2012","unstructured":"Maortua H, Martinez-Bouzas C, Calvo MT, Domingo MR, Ramos F, Garcia-Ribes A, Martinez MJ, Lopez-Ariztegui MA, Puente N, Rubio I, Tejada MI: CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain. BMC Med Genet. 2012, 13: 68-","journal-title":"BMC Med Genet"},{"issue":"3\u20135","key":"1178_CR8","first-page":"137","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 (3\u20135): 137-152.","journal-title":"Mol Syndromol"},{"issue":"Pt 10","key":"1178_CR9","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, Milh M, Boddaert N, Girard B, Cances C, Ville D, Afenjar A, Rio M, H\u00e9ron D, N'guyen Morel MA, Arzimanoglou A, Philippe C, Jonveaux P, Chelly J, Bienvenu T: Key clinical features to identify girls with CDKL5 mutations. Brain. 2008, 131 (Pt 10): 2647-2661.","journal-title":"Brain"},{"issue":"1","key":"1178_CR10","doi-asserted-by":"publisher","first-page":"223","DOI":"10.1016\/j.clinph.2005.09.008","volume":"117","author":"S Buoni","year":"2006","unstructured":"Buoni S, Zannolli R, Colamaria V, Macucci F, di Bartolo RM, Corbini L, Orsi A, Zappella M, Hayek J: Myoclonic encephalopathy in the CDKL5 gene mutation. Clin Neurophysiol. 2006, 117 (1): 223-227. 10.1016\/j.clinph.2005.09.008.","journal-title":"Clin Neurophysiol"},{"issue":"2","key":"1178_CR11","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, Moser B, Ceulemans B, Lieb W, Boor R, Stefanova I, Gillessen-Kaesbach G, Runge C, Korenke GC, Spranger S, Laccone F, Tzschach A, Kalscheuer VM: 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 (2): 165-167. 10.1007\/s10048-011-0277-6.","journal-title":"Neurogenetics"},{"issue":"3","key":"1178_CR12","doi-asserted-by":"publisher","first-page":"241","DOI":"10.1007\/s10048-009-0177-1","volume":"10","author":"S Russo","year":"2009","unstructured":"Russo S, Marchi M, Cogliati F, Bonati MT, Pintaudi M, Veneselli E, Saletti V, Balestrini M, Ben-Zeev B, Larizza L: Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes. Neurogenetics. 2009, 10 (3): 241-250. 10.1007\/s10048-009-0177-1.","journal-title":"Neurogenetics"},{"issue":"6","key":"1178_CR13","doi-asserted-by":"publisher","first-page":"1027","DOI":"10.1111\/j.1528-1167.2007.01520.x","volume":"49","author":"N Bahi-Buisson","year":"2008","unstructured":"Bahi-Buisson N, Kaminska A, Boddaert N, Rio M, Afenjar A, Gerard M, Giuliano F, Motte J, Heron D, Morel MA, Plouin P, Richelme C, des Portes V, Dulac O, Philippe C, Chiron C, Nabbout R, Bienvenu T: The three stages of epilepsy in patients with CDKL5 mutations. Epilepsia. 2008, 49 (6): 1027-1037. 10.1111\/j.1528-1167.2007.01520.x.","journal-title":"Epilepsia"},{"issue":"10","key":"1178_CR14","doi-asserted-by":"publisher","first-page":"1835","DOI":"10.1111\/j.1528-1167.2011.03174.x","volume":"52","author":"JS Liang","year":"2011","unstructured":"Liang JS, Shimojima K, Takayama R, Natsume J, Shichiji M, Hirasawa K, Imai K, Okanishi T, Mizuno S, Okumura A, Sugawara M, Ito T, Ikeda H, Takahashi Y, Oguni H, Imai K, Osawa M, Yamamoto T: CDKL5 alterations lead to early epileptic encephalopathy in both genders. Epilepsia. 2011, 52 (10): 1835-1842. 10.1111\/j.1528-1167.2011.03174.x.","journal-title":"Epilepsia"},{"issue":"1","key":"1178_CR15","doi-asserted-by":"publisher","first-page":"218","DOI":"10.1007\/s12017-012-8212-z","volume":"15","author":"DK Das","year":"2013","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. Neuromolecular Med. 2013, 15 (1): 218-225. 10.1007\/s12017-012-8212-z.","journal-title":"Neuromolecular Med"},{"issue":"13","key":"1178_CR16","doi-asserted-by":"publisher","first-page":"997","DOI":"10.1212\/01.wnl.0000326592.37105.88","volume":"71","author":"M Elia","year":"2008","unstructured":"Elia M, Falco M, Ferri R, Spalletta A, Bottitta M, Calabrese G, Carotenuto M, Musumeci SA, Lo Giudice M, Fichera M: CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy. Neurology. 2008, 71 (13): 997-999. 10.1212\/01.wnl.0000326592.37105.88.","journal-title":"Neurology"},{"issue":"6","key":"1178_CR17","doi-asserted-by":"publisher","first-page":"944","DOI":"10.1002\/ana.22124","volume":"68","author":"JL Neul","year":"2010","unstructured":"Neul JL, Kaufmann WE, Glaze DG, Christodoulou J, Clarke AJ, Bahi-Buisson N, Leonard H, Bailey ME, Schanen NC, Zappella M, Renieri A, Huppke P, Percy AK, RettSearch Consortium: Rett syndrome: revised diagnostic criteria and nomenclature. Ann Neurol. 2010, 68 (6): 944-950. 10.1002\/ana.22124.","journal-title":"Ann Neurol"},{"issue":"6","key":"1178_CR18","first-page":"1229","volume":"51","author":"RC Allen","year":"1992","unstructured":"Allen RC, Zoghbi HY, Moseley AB, Rosenblatt HM, Belmont JW: Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J Hum Genet. 1992, 51 (6): 1229-1239.","journal-title":"Am J Hum Genet"},{"issue":"6","key":"1178_CR19","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, Hollway G, Schwinger E, Kubart S, Menzel C, Hoeltzenbein M, Tommerup N, Eyre H, Harbord M, Haan E, Sutherland GR, Ropers HH, G\u00e9cz J: Disruption of the serine\/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation. Am J Hum Genet. 2003, 72 (6): 1401-1411. 10.1086\/375538.","journal-title":"Am J Hum Genet"},{"issue":"6","key":"1178_CR20","doi-asserted-by":"publisher","first-page":"1149","DOI":"10.1086\/426460","volume":"75","author":"J Tao","year":"2004","unstructured":"Tao J, Van Esch H, Hagedorn-Greiwe M, Hoffmann K, Moser B, Raynaud M, Sperner J, Fryns JP, Schwinger E, Gecz J, Ropers HH, Kalscheuer VM: Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5\/STK9) gene are associated with severe neurodevelopmental retardation. Am J Hum Genet. 2004, 75 (6): 1149-1154. 10.1086\/426460.","journal-title":"Am J Hum Genet"},{"issue":"6","key":"1178_CR21","doi-asserted-by":"publisher","first-page":"1079","DOI":"10.1086\/426462","volume":"75","author":"LS Weaving","year":"2004","unstructured":"Weaving LS, Christodoulou J, Williamson SL, Friend KL, McKenzie OL, Archer H, Evans J, Clarke A, Pelka GJ, Tam PP, Watson C, Lahooti H, Ellaway CJ, Bennetts B, Leonard H, G\u00e9cz J: Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. Am J Hum Genet. 2004, 75 (6): 1079-1093. 10.1086\/426462.","journal-title":"Am J Hum Genet"},{"key":"1178_CR22","doi-asserted-by":"crossref","first-page":"728267","DOI":"10.1155\/2012\/728267","volume":"2012","author":"C Kilstrup-Nielsen","year":"2012","unstructured":"Kilstrup-Nielsen C, Rusconi L, La Montanara P, Ciceri D, Bergo A, Bedogni F, Landsberger N: What we know and would like to know about CDKL5 and its involvement in epileptic encephalopathy. Neural Plast. 2012, 2012: 728267-","journal-title":"Neural Plast"},{"issue":"3-5","key":"1178_CR23","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1159\/000335661","volume":"2","author":"MH Willemsen","year":"2012","unstructured":"Willemsen MH, Rensen JH, de Valk HM VS-L, Hamel BC, Kleefstra T: Adult phenotypes in Angelman- and Rett-like syndromes. Mol Syndromol. 2012, 2 (3-5): 217-234.","journal-title":"Mol Syndromol"},{"issue":"2","key":"1178_CR24","doi-asserted-by":"publisher","first-page":"168","DOI":"10.1375\/twin.13.2.168","volume":"13","author":"R White","year":"2010","unstructured":"White R, Ho G, Schmidt S, Scheffer IE, Fischer A, Yendle SC, Bienvenu T, Nectoux J, Ellaway CJ, Darmanian A, Tong X, Cloosterman D, Bennetts B, Kalra V, Fullston T, Gecz J, Cox TC, Christodoulou J: Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders. Twin Res Hum Genet. 2010, 13 (2): 168-178. 10.1375\/twin.13.2.168.","journal-title":"Twin Res Hum Genet"},{"issue":"12","key":"1178_CR25","doi-asserted-by":"publisher","first-page":"2067","DOI":"10.1111\/j.1528-1167.2012.03656.x","volume":"53","author":"R Guerrini","year":"2012","unstructured":"Guerrini R, Parrini E: Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies. Epilepsia. 2012, 53 (12): 2067-2078. 10.1111\/j.1528-1167.2012.03656.x.","journal-title":"Epilepsia"},{"issue":"3","key":"1178_CR26","doi-asserted-by":"publisher","first-page":"266","DOI":"10.1038\/ejhg.2012.156","volume":"21","author":"S Fehr","year":"2013","unstructured":"Fehr S, Wilson M, Downs J, Williams S, Murgia A, Sartori S, Vecchi M, Ho G, Polli R, Psoni S, Bao X, de Klerk N, Leonard H, Christodoulou J: The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy. Eur J Hum Genet. 2013, 21 (3): 266-273. 10.1038\/ejhg.2012.156.","journal-title":"Eur J Hum Genet"},{"issue":"1","key":"1178_CR27","doi-asserted-by":"publisher","first-page":"65","DOI":"10.1016\/j.ejpn.2010.04.005","volume":"15","author":"M Castren","year":"2011","unstructured":"Castren M, Gaily E, Tengstrom C, Lahdetie J, Archer H, Ala-Mello S: Epilepsy caused by CDKL5 mutations. Eur J Paediatr Neurol. 2011, 15 (1): 65-69. 10.1016\/j.ejpn.2010.04.005.","journal-title":"Eur J Paediatr Neurol"},{"issue":"2","key":"1178_CR28","doi-asserted-by":"publisher","first-page":"232","DOI":"10.1002\/ajmg.a.32606","volume":"149A","author":"S Sartori","year":"2009","unstructured":"Sartori S, Di Rosa G, Polli R, Bettella E, Tricomi G, Tortorella G, Murgia A: A novel CDKL5 mutation in a 47, XXY boy with the early-onset seizure variant of Rett syndrome. Am J Med Genet A. 2009, 149A (2): 232-236. 10.1002\/ajmg.a.32606.","journal-title":"Am J Med Genet A"},{"issue":"1","key":"1178_CR29","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1212\/01.wnl.0000349658.05677.d7","volume":"73","author":"Y Fichou","year":"2009","unstructured":"Fichou Y, Bieth E, Bahi-Buisson N, Nectoux J, Girard B, Chelly J, Chaix Y, Bienvenu T: Re: CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy. Neurology. 2009, 73 (1): 77-78. 10.1212\/01.wnl.0000349658.05677.d7. author reply 78","journal-title":"Neurology"},{"issue":"42","key":"1178_CR30","doi-asserted-by":"publisher","first-page":"32048","DOI":"10.1074\/jbc.M606325200","volume":"281","author":"I Bertani","year":"2006","unstructured":"Bertani I, Rusconi L, Bolognese F, Forlani G, Conca B, De Monte L, Badaracco G, Landsberger N, Kilstrup-Nielsen C: Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation. J Biol Chem. 2006, 281 (42): 32048-32056. 10.1074\/jbc.M606325200.","journal-title":"J Biol Chem"},{"issue":"7","key":"1178_CR31","doi-asserted-by":"publisher","first-page":"1612","DOI":"10.1002\/ajmg.a.35401","volume":"158A","author":"N Bahi-Buisson","year":"2012","unstructured":"Bahi-Buisson N, Villeneuve N, Caietta E, Jacquette A, Maurey H, Matthijs G, Van Esch H, Delahaye A, Moncla A, Milh M, Zufferey F, Diebold B, Bienvenu T: Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships. Am J Med Genet A. 2012, 158A (7): 1612-1619. 10.1002\/ajmg.a.35401.","journal-title":"Am J Med Genet A"},{"issue":"4","key":"1178_CR32","doi-asserted-by":"publisher","first-page":"343","DOI":"10.1007\/s004390000382","volume":"107","author":"A Sharp","year":"2000","unstructured":"Sharp A, Robinson D, Jacobs P: Age- and tissue-specific variation of X chromosome inactivation ratios in normal women. Hum Genet. 2000, 107 (4): 343-349. 10.1007\/s004390000382.","journal-title":"Hum Genet"}],"container-title":["BMC Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/1471-2350-15-24.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1186\/1471-2350-15-24\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/1471-2350-15-24","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/1471-2350-15-24.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,7,10]],"date-time":"2023-07-10T18:48:35Z","timestamp":1689014915000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcmedgenet.biomedcentral.com\/articles\/10.1186\/1471-2350-15-24"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,2,25]]},"references-count":32,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2014,12]]}},"alternative-id":["1178"],"URL":"https:\/\/doi.org\/10.1186\/1471-2350-15-24","relation":{},"ISSN":["1471-2350"],"issn-type":[{"value":"1471-2350","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,2,25]]},"assertion":[{"value":"17 October 2013","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"12 February 2014","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"25 February 2014","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}],"article-number":"24"}}