CDKL5 in different atypical rett syndrome variants: Description of the first eight patients from Spain

Journal of Pediatric Epilepsy

Volumn 1, Issue 1, 2012, Pages 27-35

  Martínez, Ana Roche ^a   Armstrong, Judith ^a   Gerotina, Edgar ^a   Fons, Carmen ^a   Campistol, Jaume ^a   Pineda, Mercé ^a  

^a HOSPITAL SANT JOAN DE DÉU   (Spain)

Author keywords

Cyclin dependent kinase like 5; Drug resistant epileptic encephalopathy; Early epilepsy rtt variant; Phenotypegenotype; Rett syndrome

Indexed keywords

EID: 85013612035     PISSN: 2146457X     EISSN: 21464588     Source Type: Journal    
DOI: 10.3233/PEP-2012-005     Document Type: Article

References (26)

1. Mari F, Azimonti S, Bertani I, Bolognese F, Colombo E, Caselli R, et al. CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome. Hum Mol Genet 2005; 14: 1935-46.
2. Ballestar E, Ropero S, Alaminos M, Armstrong J, Setien F, Aguelo R, et al. The impact of MECP2 mutations in the expression patterns of Rett syndrome patients. Hum Genet 2005; 116: 91-104.
3. Weaving LS, Ellaway CJ, Gécz J, Christodoulou J. Rett syndrome:clinical review and genetic update. J Med Genet 2005; 42: 1-7.
4. Tao J, Van Esch H, Hagedorn-Greiwe M, Hoffman K, Moser B, Raynaud M, et al. 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: 1149-54.
5. Weaving LS, Christodoulou J, Williamson SL, Friend KL, McKenzie OL, Harcher H, et al. Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. Am J Hum Genet 2004; 75: 1079-93.
6. Lin C, Franco B, Rosner MR. CDKL5/Stk9 kinase inactivation is associated with neuronal developmental disorders. Hum Mol Genet 2005; 14: 3775-86.
7. Deprez L, Jansen A, De Jonghe P. Genetics of epilepsy syndromes starting in the first year of life. Neurology 2009; 72: 273-81.
8. Scala E, Ariani F, Mari F, Caselli R, Pescucci C, Longo I, et al. CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms. J Med Genet 2005; 42: 103-7.
9. EliaM, FalcoM, Ferri R, Spalletta A, Bottitta M, Calabresse G, et al. CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy. Neurol 2008; 71: 997-9.
10. Castrén M, Gaily E, Tengström C, Lähdetie J, Archer H, Ala-Mello S. Epilepsy caused by CDKL5 mutations. Eur J Paediatr Neurol 2011; 15: 65-9.
11. White R, Ho G, Schmidt S, Scheffer IL, Fisher A, Yendle SC, et al. Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders. Twin Res Hum Genet 2010; 13: 168-78.
12. Bertani I, Rusconi L, Bolognese F, Forlani G, Conca B, De Monte L, et al. Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation. J Biol Chem 2006; 281: 32048-56.
13. Bahi-Buisson N, Nectoux J, Rosas-Vargas H, Milh M, Boddaert N, Girard B, et al. Key clinical features to identify girls with CDKL5 mutations. Brain 2008; 131 (Pt 10): 2647-61.
14. Carouge D, Host L, Aunis D, Zwiller J, Anglard P. CDKL5 is a brain MeCP2 target gene regulated by DNA methylation. Neurobiol Dis 2010; 38: 414-24.
15. Russo S, Marchi M, Cogliati F, Bonati MT, Pintaudi M, Veneselli E, et al. Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes. Neurogenetics 2009; 10: 241-50.
16. Sprovieri T, Conforti FL, Fiumara A, Mazzei R, Ungaro C, Citrigno L, et al. A novel mutation in the X-linked cyclindependent kinase-like 5 (CDKL5) gene associated with a severe Rett phenotype. Am J Med Genet A 2009; 149A:A722-5.
17. Grosso S, Brogna A, Bazzotti S, Renieri A, Morgese G, Balestri P. Seizures and electroencephalographic findings in CDKL5 mutations: case report and review. Brain Dev 2007; 29: 239-42.
18. Martinowich K, Hattori D, Wu H, Fouse S, He F, Hu Y, et al. DNA methylation-related chromatin remodeling in activitydependent BDNF gene regulation. Science 2003; 302: 890-3.
19. Zeev BB, Bebbington A, Ho G, Leonard H, De Klerl N, Gak E, et al. The common BDNF polymorphism may be a modifier of disease severity in Rett syndrome. Neurol 2009; 72: 1242-7.
20. Nemos C, Lambert L, Giuliano F, Doray B, Robertie A, Goldenberg A, et al. 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: 357-71.
21. Nectoux J, Bahi-Buisson N, Guellec I, Coste I, De Roux N, Rosas H, et al. The p.Val66Met polymorphism in the BDNF gene protects against early seizures in Rett syndrome. Neurol 2008; 70 (22 Pt 2): 2145-51.
22. Evans JC, Archer HL, Colley JP, Ravn K, Nielsen JB, Kerr A, et al. Early onset seizures and Rett-like features associated with mutations in CDKL5. Eur J Hum Genet 2005; 13: 1113-20.
23. Bahi-Buisson N, Kaminska A, Boddaert N, Rio N, Afenjar A, Gerard M, et al. The three stages of epilepsy in patients with CDKL5 mutations. Epilepsia 2008; 49: 1027-37.
24. Artuso R, Mencarelli MA, Polli R, Sartori S, Ariani F, Pollazzon M, et al. Early-onset seizure variant of Rett syndrome:definition of the clinical diagnostic criteria. Brain Dev 2010; 32: 17-24.
25. Rosas-Vargas H, Bahi-Buisson N, Philippe C, Nectoux J, Girard B, N’Guyen Morel M, et al. Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy. J Med Genet 2008; 45: 172-8.
26. Monrós E, Armstrong J, Aibar E, Poo P, Canós I, Pineda M. Rett syndrome in Spain: mutation analysis and clinical correlations. Brain Dev 2001; 23(Suppl 1): S251-3.