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1.	Everett, Kate, et al. (author) Linkage and mutational analysis of CLCN2 in childhood absence epilepsy 2007 In: Epilepsy Research. - : Elsevier BV. - 0920-1211 .- 1872-6844. ; 75:2-3, s. 145-153 Journal article (peer-reviewed)abstract In order to assess the chloride channel gene CLCN2 as a candidate susceptibility gene for childhood absence epilepsy, parametric and non-parametric linkage analysis was performed in 65 nuclear pedigrees. This provided suggestive evidence for linkage with heterogeneity: NPL score=2.3, p<0.009; HLOD=1.5, α=0.44. Mutational analysis of the entire genomic sequence of CLCN2 was performed in 24 unrelated patients from pedigrees consistent with linkage, identifying 45 sequence variants including the known non-synonymous polymorphism rs2228292 (G2154C, Glu718Asp) and a novel variant IVS4+12G>A. Intra-familial association analysis using the pedigrees and a further 308 parent–child trios showed suggestive evidence for transmission disequilibrium of the G2154C minor allele: AVE-PDT , p<0.03. Case–control analysis provided evidence for a protective effect of the IVS4+12G>A minor allele: , p<0.008. The 65 nuclear pedigrees were screened for three previously identified mutations shown to segregate with a variety of idiopathic generalised epilepsy phenotypes (597insG, IVS2-14del11 and G2144A) but none were found. We conclude that CLCN2 may be a susceptibility locus in a subset of cases of childhood absence epilepsy.
2.	Gustavsson, Anders, et al. (author) A 2-year follow-up of the swedish-danish Infliximab/Placebo trial in steroid resistant acute ulcerative colitis 2007 In: Gastroenterology. - 0016-5085 .- 1528-0012. ; 132:4, s. A146-A147 Journal article (other academic/artistic)

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Type of publication: journal article (2)

Type of content: other academic/artistic (1); peer-reviewed (1)

Author/Editor: Magnuson, Anders (1); Verbaan, Hans (1); Halfvarson, Jonas, 1 ... (1); Robinson, Robert (1); Gustavsson, Anders (1); Tysk, Curt (1); show more...; Hertervig, Erik (1); Eeg-Olofsson, Orvar (1); Blomquist, Lars (1); Aicardi, Jean (1); Aschauer, Harald (1); Brouwer, Oebele (1); Callenbach, Petra (1); Covanis, Athanasios (1); Dulac, Olivier (1); Durner, Martina (1); Feucht, Martha (1); Guerrini, Renzo (1); Nabbout, Rima (1); Sander, Thomas (1); Wirrell, Elaine (1); McKeigue, Paul (1); Karlén, Per (1); Everett, Kate (1); Chioza, Barry (1); Dooley, Joseph (1); Friis, Mogens (1); Heils, Armin (1); Kjeldsen, Marianne (1); Taske, Nichole (1); Gardiner, Mark (1); Hellstrom, Per M. (1); Jaenerot, Gunnar (1); Friis-Iiby, Ingalill (1); Granno, Christer (1); Vilien, Mogens (1); Strom, Magnus (1); Damelsson, Ake (1); show less...

University: Uppsala University (1); Örebro University (1)

Language: English (2)

Research subject (UKÄ/SCB): Medical and Health Sciences (1)

Year: 2007 (2)Undo refine

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