Beyond the single nucleotide variant in epilepsy genetics
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,Neurology (clinical)
Link
http://www.nature.com/articles/nrneurol.2014.146.pdf
Reference10 articles.
1. de Kovel, C. G. et al. Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. Brain 133, 23–32 (2010).
2. Mefford, H. C. et al. Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies. PLoS Genet. 6, e1000962 (2010).
3. Heinzen, E. L. et al. Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes. Am. J. Hum. Genet. 14, 707–718 (2010).
4. Olson, H. et al. Copy number variation plays an important role in clinical epilepsy. Ann. Neurol. 75, 943–958 (2014).
5. Iafrate, A. J. et al. Detection of large-scale variation in the human genome. Nat. Genet. 36, 949–951 (2004).
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