Medicine (Austin & Northern Health) - Research Publications

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    Epi4K: Gene discovery in 4,000 genomes
    Berkovic, S ; Cossette, P ; Delanty, N ; Dlugos, D ; Eichler, E ; Epstein, M ; Glauser, T ; Goldstein, D ; Heinzen, E ; Johnson, MR ; Kuzniecky, R ; Lowenstein, D ; Marson, T ; Mefford, H ; O'Brien, T ; Ottman, R ; Poduri, A ; Scheffer, I ; Sherr, E ; Shianna, K (WILEY, 2012-08-01)
    A major challenge in epilepsy research is to unravel the complex genetic mechanisms underlying both common and rare forms of epilepsy, as well as the genetic determinants of response to treatment. To accelerate progress in this area, the National Institute of Neurological Disorders and Stroke (NINDS) recently offered funding for the creation of a "Center without Walls" to focus on the genetics of human epilepsy. This article describes Epi4K, the collaborative study supported through this grant mechanism and having the aim of analyzing the genomes of a minimum 4,000 subjects with highly selected and well-characterized epilepsy.