Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder-Reference-Cited by-同舟云学术

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

Published:2009-05-27 Issue:4 Volume:10 Page:363-369
ISSN:1364-6745
Container-title:neurogenetics
language:en
Short-container-title:Neurogenetics

Author:

Erez Ayelet,Patel Amina J.,Wang Xueqing,Xia Zhilian,Bhatt Samarth S.,Craigen William,Cheung Sau Wai,Lewis Richard A.,Fang Ping,Davenport Sandra L. H.,Stankiewicz Pawel,Lalani Seema R.

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10048-009-0195-z.pdf

Reference19 articles.

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2. Tao J, Van Esch H, Hagedorn-Greiwe M, Hoffmann K, Moser B, Raynaud M, Sperner J, Fryns JP, Schwinger E, Gecz J, Ropers HH, Kalscheuer VM (2004) Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation. Am J Hum Genet 75:1149–1154. doi: 10.1086/426460

3. Weaving LS, Christodoulou J, Williamson SL, Friend KL, McKenzie OL, Archer H, Evans J, Clarke A, Pelka GJ, Tam PP, Watson C, Lahooti H, Ellaway CJ, Bennetts B, Leonard H, Gecz J (2004) Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. Am J Hum Genet 75:1079–10935. doi: 10.1086/426462

4. 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 (2005) Early onset seizures and Rett-like features associated with mutations in CDKL5. Eur J Hum Genet 13:1113–1120. doi: 10.1038/sj.ejhg.5201451

5. 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 (2006) CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients. J Med Genet 43:729–734. doi: 10.1136/jmg.2006.041467

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