Kate V Everett
Affiliation: University College London
- Linkage and association analysis of CACNG3 in childhood absence epilepsyKate V Everett
Department of Paediatrics and Child Health, Royal Free and University College Medical School, University College London, London, UK
Eur J Hum Genet 15:463-72. 2007..No coding sequence variants were identified, although four variants are predicted to affect exonic splicing. This evidence supports CACNG3 as a susceptibility locus in a subset of CAE patients...
- Genome-wide high-density SNP-based linkage analysis of infantile hypertrophic pyloric stenosis identifies loci on chromosomes 11q14-q22 and Xq23Kate V Everett
University College London Institute of Child Health, London WC1N 1EH, UK
Am J Hum Genet 82:756-62. 2008..The two linked chromosomal regions each harbor functional candidate genes that are members of the canonical transient receptor potential (TRPC) family of ion channels and have a potential role in smooth-muscle control and hypertrophy...
- Linkage of monogenic infantile hypertrophic pyloric stenosis to chromosome 16q24Kate V Everett
University College London Institute of Child Health, London, UK
Eur J Hum Genet 16:1151-4. 2008..7) through an SNP-based genome wide scan. Fourteen additional multiplex pedigrees did not show evidence of linkage to this region, indicating locus heterogeneity...
- Infantile hypertrophic pyloric stenosis: evaluation of three positional candidate genes, TRPC1, TRPC5 and TRPC6, by association analysis and re-sequencingKate V Everett
Molecular Medicine Unit, University College London Institute of Child Health, London, UK
Hum Genet 126:819-31. 2009..Fine mapping of all three genes using a tagSNP approach and re-sequencing identified a SNP in the promoter region of TRPC6 and a missense variant in exon 4 of TRPC6 which may be putative causal variants...
- Genome wide high density SNP-based linkage analysis of childhood absence epilepsy identifies a susceptibility locus on chromosome 3p23-p14Barry A Chioza
Institute of Child Health, University College London, London, UK
Epilepsy Res 87:247-55. 2009..9, p<0.0001; HLOD=3.3, alpha=0.7). The linked region harbours the functional candidate genes TRAK1 and CACNA2D2. Fine-mapping using a tagSNP approach demonstrated disease association with variants in TRAK1...