CDKL5 mutations in early onset epilepsy: Case report and review of the literature

Journal of Pediatric Epilepsy

Volumn 1, Issue 3, 2012, Pages 151-159

  Olson, Heather E ^a,b   Poduri, Annapurna ^a,b  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

Author keywords

CDKL5; Early onset epilepsy; Epileptic encephalopathy; Rett syndrome

Indexed keywords

EID: 85013586686     PISSN: 2146457X     EISSN: 21464588     Source Type: Journal    
DOI: 10.3233/PEP-2012-025     Document Type: Article

References (34)

1. Scheffer IE. Genetic testing in epilepsy: what should you be doing? Epilepsy Curr 2011;11(4): 107-11.
2. Chen Q, Zhu YC, Yu J, Miao S, Zheng J, Xu L, et al. CDKL5, a protein associated with rett syndrome, regulates neuronal morphogenesis via Rac1 signaling. J Neurosci 2010;30(38): 12777-86.
3. Kalscheuer VM, Tao J, Donnelly A, Hollway G, Schwinger E, Kübart S, 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(6): 1401-11.
4. 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(4): 307-14.
5. Bahi-Buisson N, Kaminska A, Boddaert N, Rio M, Afenjar A, Gérard M, et al. The three stages of epilepsy in patients with CDKL5 mutations. Epilepsia 2008;49(6): 1027-37.
6. Archer HL, Evans J, Edwards S, Colley J, Newbury-Ecob R, O’Callaghan F, et al. CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients. J Med Genet 2006;43(9): 729-34.
7. 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 (4): 239-42.
8. 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.
9. Pintaudi M, Baglietto MG, Gaggero R, Parodi E, Pessagno A, Marchi M, et al. Clinical and electroencephalographic features in patients with CDKL5 mutations: two new Italian cases and review of the literature. Epilepsy Behav 2008 Feb; 12(2):326-31.
10. Nemos C, Lambert L, Giuliano F, Doray B, Roubertie 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(4): 357-71.
11. 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 (3): 241-50.
12. Liang JS, Shimojima K, Takayama R, Natsume J, Shichiji M, Hirasawa K, et al. CDKL5 alterations lead to early epileptic encephalopathy in both genders. Epilepsia 2011;52(10): 1835-42.
13. Elia M, Falco M, Ferri R, Spalletta A, Bottitta M, Calabrese G, et al. CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy. Neurology 2008;71(13): 997-9.
14. Artuso R, Mencarelli MA, Polli R, Sartori S, Ariani F, PollazzonM, et al. Early-onset seizure variant of Rett syndrome:definition of the clinical diagnostic criteria. Brain Dev 2010; 32 (1): 17-24.
15. Mei D, Marini C, Novara F, Bernardina BD, Granata T, Fontana E, et al. Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy. Epilepsia 2010;51(4): 647-54.
16. Sartori S, Polli R, Bettella E, Rossato S, Andreoli W, Vecchi M, et al. Pathogenic role of the X-linked cyclin-dependent kinaselike 5 and aristaless-related homeobox genes in epileptic encephalopathy of unknown etiology with onset in the first year of life. J Child Neurol 2011;26(6): 683-91.
17. Melani F, Mei D, Pisano T, Savasta S, Franzoni E, Ferrari AR, et al. CDKL5 gene-related epileptic encephalopathy: electroclinical findings in the first year of life. Dev Med Child Neurol 2011;53(4): 354-60.
18. Saitsu H, Osaka H, Nishiyama K, Tsurusaki Y, Doi H, Miyake N, et al. A girl with early-onset epileptic encephalopathy associated with microdeletion involving CDKL5. Brain Dev 2012;34(5): 364-7.
19. Buoni S, Zannolli R, Colamaria V, Macucci F, di Bartolo RM, Corbini L, et al. Myoclonic encephalopathy in the CDKL5 gene mutation. Clin Neurophysiol 2006;117(1): 223-7.
20. Nabbout R, Depienne C, Chipaux M, Girard B, Souville I, Trouillard O, et al. CDKL5 and ARX mutations are not responsible for early onset severe myoclonic epilepsy in infancy. Epilepsy Res 2009;87(1): 25-30.
21. Klein KM, Yendle SC, Harvey AS, Antony JH, Wallace G, Bienvenu T, et al. A distinctive seizure type in patients with CDKL5 mutations: Hypermotor-tonic-spasms sequence. Neurology 2011;76(16): 1436-8.
22. Fichou Y, Bieth E, Bahi-Buisson N, Nectoux J, Girard B, Chelly J, et al. Re: CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy. Neurology 2009;73(1): 77-8.
23. Weaving LS, Christodoulou J, Williamson SL, Friend KL, McKenzie OL, Archer H, et al. Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. Am J Hum Genet 2004;75(6): 1079-93.
24. Castrén M, Gaily E, Tengström C, Lähdetie J, Archer H, Ala-Mello S. Epilepsy caused by CDKL5 mutations. Eur J Paediatr Neurol 2011;15(1): 65-9.
25. Stalpers XL, Spruijt L, Yntema HG, Verrips A. Clinical phenotype of 5 females with a CDKL5 mutation. J Child Neurol 2012;27(1): 90-3.
26. White R, Ho G, Schmidt S, Scheffer IE, Fischer 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(2): 168-78.
27. Tao J, Van Esch H, Hagedorn-GreiweM, HoffmannK, 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(6): 1149-54.
28. Pintaudi M, Calevo MG, Vignoli A, Parodi E, Aiello F, Baglietto MG, et al. Epilepsy in Rett syndrome: clinical and genetic features. Epilepsy Behav 2010;19(3): 296-300.
29. Sartori S, Di Rosa G, Polli R, Bettella E, Tricomi G, Tortorella G, et al. A novel CDKL5 mutation in a 47, XXY boy with the earlyonset seizure variant of Rett syndrome. Am J Med Genet A 2009;149A(2):232-6.
30. Masliah-Plachon J, Auvin S, Nectoux J, Fichou Y, Chelly J, Bienvenu T. Somatic mosaicism for a CDKL5 mutation as an epileptic encephalopathy in males. Am J Med Genet A 2010;152A(8):2110-1.
31. Bartnik M, Derwińska K, Gos M, Obersztyn E, Kołodziejska KE, Erez A, et al. Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females. Genet Med 2011;13(5): 447-52.
32. Rademacher N, HambrockM, Fischer U, Moser B, Ceulemans B, Lieb W, et al. Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, earlyonset seizures and Rett-like features. Neurogenetics 2011;12(2): 165-7.
33. Intusoma U, Hayeeduereh F, Plong-OnO, Sripo T, Vasiknanonte P, Janjindamai S, et al. Mutation screening of the CDKL5 gene in cryptogenic infantile intractable epilepsy and review of clinical sensitivity. Eur J Paediatr Neurol 2011;15(5): 432-8.
34. Chiron C, Dulac O. The pharmacologic treatment of Dravet syndrome. Epilepsia 2011;52 Suppl 2:72-5.