Medicine (Austin & Northern Health) - Research Publications

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Author: O'Brien, Terence × Author: Scheffer, Ingrid × End date: 2012 × Start date: 2012 × Type: Journal Article ×

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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)
    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.
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    Familial focal epilepsy with variable foci mapped to chromosome 22q12: Expansion of the phenotypic spectrum
    Klein, KM ; O'Brien, TJ ; Praveen, K ; Heron, SE ; Mulley, JC ; Foote, S ; Berkovic, SF ; Scheffer, IE (WILEY-BLACKWELL, 2012-08)
    We aimed to refine the phenotypic spectrum and map the causative gene in two families with familial focal epilepsy with variable foci (FFEVF). A new five-generation Australian FFEVF family (A) underwent electroclinical phenotyping, and the original four-generation Australian FFEVF family (B) (Ann Neurol, 44, 1998, 890) was re-analyzed, including new affected individuals. Mapping studies examined segregation at the chromosome 22q12 FFEVF region. In family B, the original whole genome microsatellite data was reviewed. Five subjects in family A and 10 in family B had FFEVF with predominantly awake attacks and active EEG studies with a different phenotypic picture from other families. In family B, reanalysis excluded the tentative 2q locus reported. Both families mapped to chromosome 22q12. Our results confirm chromosome 22q12 as the solitary locus for FFEVF. Both families show a subtly different phenotype to other published families extending the clinical spectrum of FFEVF.