Article
Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy.
American journal of human genetics - 10 Aug 2012
Heinzen Erin L, Depondt Chantal, Cavalleri Gianpiero L, Ruzzo Elizabeth K, Walley Nicole M, Need Anna C, Ge Dongliang, He Min, Cirulli Elizabeth T, Zhao Qian, Cronin Kenneth D, Gumbs Curtis E, Campbell C Ryan, Hong Linda K, Maia Jessica M, Shianna Kevin V, McCormack Mark, Radtke Rodney A, O'Conner Gerard D, Mikati Mohamad A, Gallentine William B, Husain Aatif M, Sinha Saurabh R, Chinthapalli Krishna, Puranam Ram S, McNamara James O, Ottman Ruth, Sisodiya Sanjay M, Delanty Norman, Goldstein David B
Abstract excerpt
Idiopathic generalized epilepsy (IGE) is a complex disease with high heritability, but little is known about its genetic architecture. Rare copy-number variants have been found to explain nearly 3% of individuals with IGE; however, it remains unclear whether variants with moderate effect size and frequencies below what are reliably detected with genome-wide association studies contribute significantly to disease...
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