Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy-Reference-Cited by-同舟云学术

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Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy

Published:2016-04-26 Issue:1 Volume:17 Page:
ISSN:1471-2350
Container-title:BMC Medical Genetics
language:en
Short-container-title:BMC Med Genet

Author:

Fry Andrew E.,Rees Elliott,Thompson Rose,Mantripragada Kiran,Blake Penny,Jones Glyn,Morgan Sian,Jose Sian,Mugalaasi Hood,Archer Hayley,McCann Emma,Clarke Angus,Taylor Clare,Davies Sally,Gibbon Frances,Te Water Naude Johann,Hartley Louise,Thomas Gareth,White Catharine,Natarajan Jaya,Thomas Rhys H.,Drew Cheney,Chung Seo-Kyung,Rees Mark I.,Holmans Peter,Owen Michael J.,Kirov George,Pilz Daniela T.,Kerr Michael P.

Funder

Baily Thomas Charitable Fund

Medical Research Council

Medical Research Council (GB)

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1186/s12881-016-0294-2

Reference66 articles.

1. Cooper GM, Coe BP, Girirajan S, Rosenfeld JA, Vu TH, Baker C, et al. A copy number variation morbidity map of developmental delay. Nat Genet. 2011;43(9):838–46.

2. Pinto D, Pagnamenta AT, Klei L, Anney R, Merico D, Regan R, et al. Functional impact of global rare copy number variation in autism spectrum disorders. Nature. 2010;466(7304):368–72.

3. Mefford HC, Muhle H, Ostertag P, von Spiczak S, Buysse K, Baker C, et al. Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies. PLoS Genet. 2010;6(5):e1000962.

4. Rees E, Walters JT, Chambert KD, O’Dushlaine C, Szatkiewicz J, Richards AL, et al. CNV analysis in a large schizophrenia sample implicates deletions at 16p12.1 and SLC1A1 and duplications at 1p36.33 and CGNL1. Hum Mol Genet. 2014;23(6):1669–76.

5. Kalscheuer VM, Tao J, Donnelly A, Hollway G, Schwinger E, Kubart S, 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(6):1401–11.

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