| 1 | CDKL5, EIEE2, FOXG1, MECP2, RTT, RTTL1
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| CAGE-defined promoter regions of the genes implicated in Rett Syndrome.
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| Vitezic M, Bertin N, Andersson R, Lipovich L, Kawaji H, Lassmann T, Sandelin A, Heutink P, Goldowitz D, Ha T, Zhang P, Patrizi A, Fagiolini M, Forrest AR, Carninci P, Saxena A.
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| BMC Genomics 15(1):1177. [Epub ahead of print]
2014
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| 2 | CDKL5, EIEE2
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| Respiratory and sleep disorders in female children with atypical Rett syndrome caused by mutations in the CDKL5 gene.
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| Hagebeuk EE, van den Bossche RA, de Weerd AW.
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| Dev Med Child Neurol 55(5):480-4. doi: 10.1111/j.1469-8749.2012.04432.x. Epub 2012 Nov 14.
2013
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| 3 | ARX, CDKL5, EIEE1, EIEE2, ISSX
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| CDKL5 and ARX mutations in males with early-onset epilepsy.
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| Mirzaa GM, Paciorkowski AR, Marsh ED, Berry-Kravis EM, Medne L, Alkhateeb A, Grix A, Wirrell EC, Powell BR, Nickels KC, Burton B, Paras A, Kim K, Chung W, Dobyns WB, Das S.
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| Pediatr Neurol 48(5):367-77. doi: 10.1016/j.pediatrneurol.2012.12.030. Erratum in: Pediatr Neurol. 2013 Jul;49(1):74. Alkhateeb, Asem [added].
2013
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| 4 | CDKL5, EIEE2, ISSX
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| Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females.
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| Bartnik M, Derwińska K, Gos M, Obersztyn E, Kołodziejska KE, Erez A, Szpecht-Potocka A, Fang P, Terczyńska I, Mierzewska H, Lohr NJ, Bellus GA, Reimschisel T, Bocian E, Mazurczak T, Cheung SW, Stankiewicz P.
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| Genet Med 13(5):447-52.
2011
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| 5 | CDKL5, EIEE2, ISSX
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| Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy.
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| Mei D, Marini C, Novara F, Bernardina BD, Granata T, Fontana E, Parrini E, Ferrari AR, Murgia A, Zuffardi O, Guerrini R.
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| Epilepsia 51(4):647-54. Epub 2009 Sep 22.
2010
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| 6 | CDKL5, EIEE2
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| A novel mutation in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene associated with a severe Rett phenotype.
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| Sprovieri T, Conforti FL, Fiumara A, Mazzei R, Ungaro C, Citrigno L, Muglia M, Arena A, Quattrone A.
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| Am J Med Genet A 149A(4):722-5. 2009
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| 7 | CDKL5, EIEE2, ISSX
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| Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature.
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| Nemos C, Lambert L, Giuliano F, Doray B, Roubertie A, Goldenberg A, Delobel B, Layet V, N'guyen MA, Saunier A, Verneau F, Jonveaux P, Philippe C.
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| Clin Genet 76(4):357-71. Review.PMID: 19793311 2009
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| 8 | CDKL5, EIEE2
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| Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy.
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| Rosas-Vargas H, Bahi-Buisson N, Philippe C, Nectoux J, Girard B, N'Guyen Morel MA, Gitiaux C, Lazaro L, Odent S, Jonveaux P, Chelly J, Bienvenu T.
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| J Med Genet 45(3):172-8. Epub 2007 Nov 9. 2008
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| 9 | CDKL5, EIEE2, ISSX
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| CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy.
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| Elia M, Falco M, Ferri R, Spalletta A, Bottitta M, Calabrese G, Carotenuto M, Musumeci SA, Lo Giudice M, Fichera M.
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| Neurology 71(13):997-9.
2008
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| 10 | CDKL5, EIEE2, ISSX
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| Key clinical features to identify girls with CDKL5 mutations.
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| Bahi-Buisson N, Nectoux J, Rosas-Vargas H, Milh M, Boddaert N, Girard B, Cances C, Ville D, Afenjar A, Rio M, Héron D, N'guyen Morel MA, Arzimanoglou A, Philippe C, Jonveaux P, Chelly J, Bienvenu T.
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| Brain 131(Pt 10):2647-61. Epub 2008 Sep 12.
2008
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| 11 | CDKL5, EIEE2, ISSX
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| Myoclonic encephalopathy in the CDKL5 gene mutation.
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| Buoni S, Zannolli R, Colamaria V, Macucci F, di Bartolo RM, Corbini L, Orsi A, Zappella M, Hayek J.
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| Clin Neurophysiol 117(1):223-7. Epub 2005 Dec 2. 2006
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| 12 | CDKL5, EIEE2, ISSX
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| CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients.
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| Archer HL, Evans J, Edwards S, Colley J, Newbury-Ecob R, O'Callaghan F, Huyton M, O'Regan M, Tolmie J, Sampson J, Clarke A, Osborne J.
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| J Med Genet 43(9):729-34. Epub 2006 Apr 12. 2006
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| 13 | CDKL5, EIEE2, ISSX
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| Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation.
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| Bertani I, Rusconi L, Bolognese F, Forlani G, Conca B, De Monte L, Badaracco G, Landsberger N, Kilstrup-Nielsen C.
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| J Biol Chem 281(42):32048-56. Epub 2006 Aug 24. 2006
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| 14 | CDKL5, EIEE2, RTT
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| CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms.
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| Scala E, Ariani F, Mari F, Caselli R, Pescucci C, Longo I, Meloni I, Giachino D, Bruttini M, Hayek G, Zappella M, Renieri A.
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| J Med Genet 42(2):103-7. 2005
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| 15 | CDKL5, EIEE2, ISSX, RTT
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| CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome.
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| Mari F, Azimonti S, Bertani I, Bolognese F, Colombo E, Caselli R, Scala E, Longo I, Grosso S, Pescucci C, Ariani F, Hayek G, Balestri P, Bergo A, Badaracco G, Zappella M, Broccoli V, Renieri A, Kilstrup-Nielsen C, Landsberger N.
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| Hum Mol Genet 14(14):1935-46. Epub 2005 May 25. 2005
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| 16 | CDKL5, EIEE2, ISSX
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| Early onset seizures and Rett-like features associated with mutations in CDKL5.
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| 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.
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| Eur J Hum Genet 13(10):1113-20. 2005
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| 17 | CDKL5, EIEE2, ISSX, MECP2, RTT
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| CDKL5 and MeCP2: partners in Rett pathogenesis.
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| Warby S.
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| Clin Genet 68(6):497-500. No abstract available. 2005
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| 18 | CDKL5, EIEE2, ISSX
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| CDKL5/Stk9 kinase inactivation is associated with neuronal developmental disorders.
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| Lin C, Franco B, Rosner MR.
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| Hum Mol Genet 14(24):3775-86. Epub 2005 Dec 5. 2005
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| 19 | CDKL5, EIEE2, ISSX
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| Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation.
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| 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.
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| Am J Hum Genet 75(6):1149-54. 2004
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| 20 | CDKL5, EIEE2, ISSX, MECP2, RTT
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| Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.
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| 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, Gecz J.
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| Am J Hum Genet 75(6):1079-93. Epub 2004 Oct 18. 2004
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| 21 | CDKL1, CDKL2, CDKL5, EIEE2, ISSX
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| Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation.
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| 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, Gecz J.
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| Am J Hum Genet 72(6):1401-11. Epub 2003 May 07. 2003
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