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

  • Published:2014-02-25 Issue:1 Volume:15 Page:
  • ISSN:1471-2350
  • Container-title:BMC Medical Genetics
  • language:en
  • Short-container-title:BMC Med Genet

Author:

Zhao Ying,Zhang Xiaoying,Bao Xinhua,Zhang Qingping,Zhang Jingjing,Cao Guangna,Zhang Jie,Li Jiarui,Wei Liping,Pan Hong,Wu Xiru

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Reference32 articles.

1. Artuso R, Mencarelli MA, Polli R, Sartori S, Ariani F, Pollazzon M, Marozza A, Cilio MR, Specchio N, Vigevano F, Vecchi M, Boniver C, Dalla Bernardina B, Parmeggiani A, Buoni S, Hayek G, Mari F, Renieri A, Murgia A: Early-onset seizure variant of Rett syndrome: definition of the clinical diagnostic criteria. Brain Dev. 2010, 32 (1): 17-24. 10.1016/j.braindev.2009.02.004.

2. Scala E, Ariani F, Mari F, Caselli R, Pescucci C, Longo I, Meloni I, Giachino D, Bruttini M, Hayek G, Zappella M, Renieri A: CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms. J Med Genet. 2005, 42 (2): 103-107. 10.1136/jmg.2004.026237.

3. Evans JC, Archer HL, Colley JP, Ravn K, Nielsen JB, Kerr A, Williams E, Christodoulou J, Gecz J, Jardine PE, Wright MJ, Pilz DT, Lazarou L, Cooper DN, Sampson JR, Butler R, Whatley SD, Clarke AJ: Early onset seizures and Rett-like features associated with mutations in CDKL5. Eur J Hum Genet. 2005, 13 (10): 1113-1120. 10.1038/sj.ejhg.5201451.

4. 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: CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients. J Med Genet. 2006, 43 (9): 729-734. 10.1136/jmg.2006.041467.

5. Rosas-Vargas H, Bahi-Buisson N, Philippe C, Nectoux J, Girard B, N’Guyen Morel MA, Gitiaux C, Lazaro L, Odent S, Jonveaux P, Chelly J, Bienvenu T: Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy. J Med Genet. 2008, 45 (3): 172-178.

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