The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy-Reference-Cited by-同舟云学术

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

Published:2012-08-08 Issue:3 Volume:21 Page:266-273
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Fehr Stephanie,Wilson Meredith,Downs Jenny,Williams Simon,Murgia Alessandra,Sartori Stefano,Vecchi Marilena,Ho Gladys,Polli Roberta,Psoni Stavroula,Bao Xinhua,de Klerk Nick,Leonard Helen,Christodoulou John

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg2012156.pdf

Reference49 articles.

1. Kalscheuer VM, Tao J, Donnelly A 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: 1401–1411.

2. Tao J, Van Esch H, Hagedorn-Greiwe 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: 1149–1154.

3. Weaving LS, Christodoulou J, Williamson SL et al. Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. Am J Hum Genet 2004; 75: 1079–1093.

4. Evans JC, Archer HL, Colley JP et al. Early onset seizures and Rett-like features associated with mutations in CDKL5. Eur J Hum Genet 2005; 13: 1113–1120.

5. Archer HL, Evans J, Edwards S et al. CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients. J Med Genet 2006; 43: 729–734.

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