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Items: 1 to 20 of 124

1.

Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder.

Erez A, Patel AJ, Wang X, Xia Z, Bhatt SS, Craigen W, Cheung SW, Lewis RA, Fang P, Davenport SL, Stankiewicz P, Lalani SR.

Neurogenetics. 2009 Oct;10(4):363-9. doi: 10.1007/s10048-009-0195-z.

PMID:
19471977
2.

Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females.

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.

Genet Med. 2011 May;13(5):447-52. doi: 10.1097/GIM.0b013e31820605f5.

PMID:
21293276
3.

Key clinical features to identify girls with CDKL5 mutations.

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.

Brain. 2008 Oct;131(Pt 10):2647-61. doi: 10.1093/brain/awn197.

4.

Novel mutations in cyclin-dependent kinase-like 5 (CDKL5) gene in Indian cases of Rett syndrome.

Das DK, Mehta B, Menon SR, Raha S, Udani V.

Neuromolecular Med. 2013 Mar;15(1):218-25. doi: 10.1007/s12017-012-8212-z.

PMID:
23242510
5.

Complex mosaic CDKL5 deletion with two distinct mutant alleles in a 4-year-old girl.

Boutry-Kryza N, Ville D, Labalme A, Calender A, Dupont JM, Touraine R, Edery P, des Portes V, Sanlaville D, Lesca G.

Am J Med Genet A. 2014 Aug;164A(8):2025-8. doi: 10.1002/ajmg.a.36547.

PMID:
24715584
6.

Early onset seizures and Rett-like features associated with mutations in CDKL5.

Evans JC, Archer HL, Colley JP, Ravn K, Nielsen JB, Kerr A, Williams E, Christodoulou J, Gécz J, Jardine PE, Wright MJ, Pilz DT, Lazarou L, Cooper DN, Sampson JR, Butler R, Whatley SD, Clarke AJ.

Eur J Hum Genet. 2005 Oct;13(10):1113-20.

7.

Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients.

Zhao Y, Zhang X, Bao X, Zhang Q, Zhang J, Cao G, Zhang J, Li J, Wei L, Pan H, Wu X.

BMC Med Genet. 2014 Feb 25;15:24. doi: 10.1186/1471-2350-15-24.

8.

A novel mutation in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene associated with a severe Rett phenotype.

Sprovieri T, Conforti FL, Fiumara A, Mazzei R, Ungaro C, Citrigno L, Muglia M, Arena A, Quattrone A.

Am J Med Genet A. 2009 Feb 15;149A(4):722-5. doi: 10.1002/ajmg.a.32711.

PMID:
19253388
9.

Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature.

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.

Clin Genet. 2009 Oct;76(4):357-71. doi: 10.1111/j.1399-0004.2009.01194.x. Review.

PMID:
19793311
10.

CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain.

Maortua H, Martínez-Bouzas C, Calvo MT, Domingo MR, Ramos F, García-Ribes A, Martínez MJ, López-Aríztegui MA, Puente N, Rubio I, Tejada MI.

BMC Med Genet. 2012 Aug 6;13:68. doi: 10.1186/1471-2350-13-68.

11.

The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy.

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.

Eur J Hum Genet. 2013 Mar;21(3):266-73. doi: 10.1038/ejhg.2012.156.

12.

A novel CDKL5 mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome.

Sartori S, Di Rosa G, Polli R, Bettella E, Tricomi G, Tortorella G, Murgia A.

Am J Med Genet A. 2009 Feb;149A(2):232-6. doi: 10.1002/ajmg.a.32606.

PMID:
19161156
13.

Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy.

Mei D, Marini C, Novara F, Bernardina BD, Granata T, Fontana E, Parrini E, Ferrari AR, Murgia A, Zuffardi O, Guerrini R.

Epilepsia. 2010 Apr;51(4):647-54. doi: 10.1111/j.1528-1167.2009.02308.x.

14.

Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and Rett-like features.

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.

Neurogenetics. 2011 May;12(2):165-7. doi: 10.1007/s10048-011-0277-6. No abstract available.

PMID:
21318334
15.

A novel p.Arg970X mutation in the last exon of the CDKL5 gene resulting in late-onset seizure disorder.

Psoni S, Willems PJ, Kanavakis E, Mavrou A, Frissyra H, Traeger-Synodinos J, Sofokleous C, Makrythanassis P, Kitsiou-Tzeli S.

Eur J Paediatr Neurol. 2010 Mar;14(2):188-91. doi: 10.1016/j.ejpn.2009.03.006.

PMID:
19428276
16.

Maternal origin of a novel C-terminal truncation mutation in CDKL5 causing a severe atypical form of Rett syndrome.

Nectoux J, Heron D, Tallot M, Chelly J, Bienvenu T.

Clin Genet. 2006 Jul;70(1):29-33.

PMID:
16813600
17.

CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients.

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.

J Med Genet. 2006 Sep;43(9):729-34.

18.

Clinical phenotype of 5 females with a CDKL5 mutation.

Stalpers XL, Spruijt L, Yntema HG, Verrips A.

J Child Neurol. 2012 Jan;27(1):90-3. doi: 10.1177/0883073811413832.

PMID:
21765152
19.

A girl with early-onset epileptic encephalopathy associated with microdeletion involving CDKL5.

Saitsu H, Osaka H, Nishiyama K, Tsurusaki Y, Doi H, Miyake N, Matsumoto N.

Brain Dev. 2012 May;34(5):364-7. doi: 10.1016/j.braindev.2011.07.004.

PMID:
21802232
20.

CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome.

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.

Hum Mol Genet. 2005 Jul 15;14(14):1935-46.

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