Early onset seizures and Rett-like features associated with mutations in CDKL5-Reference-Cited by-同舟云学术

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

Published:2005-07-13 Issue:10 Volume:13 Page:1113-1120
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Evans Julie C,Archer Hayley L,Colley James P,Ravn Kirstine,Nielsen Jytte Bieber,Kerr Alison,Williams Elizabeth,Christodoulou John,Gécz Jozef,Jardine Philip E,Wright Michael J,Pilz Daniela T,Lazarou Lazarus,Cooper David N,Sampson Julian R,Butler Rachel,Whatley Sharon D,Clarke Angus J

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/5201451.pdf

Reference15 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. 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.

3. 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.

4. Scala E, Ariani F, Mari F et al: CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms. J Med Genet 2005; 42: 103–107.

5. Strømme P, Mangelsdorf ME, Shaw MA et al: Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. Nat Genet 2002; 30: 441–445.

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