TY - JOUR
T1 - Linkage and association analysis of CACNG3 in childhood absence epilepsy
AU - Everett, Kate V.
AU - Chioza, Barry
AU - Aicardi, Jean
AU - Aschauer, Harald
AU - Brouwer, Oebele
AU - Callenbach, Petra
AU - Covanis, Athanasios
AU - Dulac, Olivier
AU - Eeg-Olofsson, Orvar
AU - Feucht, Martha
AU - Friis, Mogens
AU - Goutieres, Françoise
AU - Guerrini, Renzo
AU - Heils, Armin
AU - Kjeldsen, Marianne
AU - Lehesjoki, Anna Elina
AU - Makoff, Andrew
AU - Nabbout, Rima
AU - Olsson, Ingrid
AU - Sander, Thomas
AU - Sirén, Auli
AU - McKeigue, Paul
AU - Robinson, Robert
AU - Taske, Nichole
AU - Rees, Michele
AU - Gardiner, Mark
PY - 2007/4
Y1 - 2007/4
N2 - Childhood absence epilepsy (CAE) is an idiopathic generalised epilepsy characterised by absence seizures manifested by transitory loss of awareness with 2.5-4Hz spike-wave complexes on ictal EEG. A genetic component to aetiology is established but the mechanism of inheritance and the genes involved are not fully defined. Available evidence suggests that genes encoding brain expressed voltage-gated calcium channels, including CACNG3 on chromosome 16p12-p13.1, may represent susceptibility loci for CAE. The aim of this work was to further evaluate CACNG3 as a susceptibility locus by linkage and association analysis. Assuming locus heterogeneity, a significant HLOD score (HLOD=3.54, α=0.62) was obtained for markers encompassing CACNG3 in 65 nuclear families with a proband with CAE. The maximum non-parametric linkage score was 2.87 (P
AB - Childhood absence epilepsy (CAE) is an idiopathic generalised epilepsy characterised by absence seizures manifested by transitory loss of awareness with 2.5-4Hz spike-wave complexes on ictal EEG. A genetic component to aetiology is established but the mechanism of inheritance and the genes involved are not fully defined. Available evidence suggests that genes encoding brain expressed voltage-gated calcium channels, including CACNG3 on chromosome 16p12-p13.1, may represent susceptibility loci for CAE. The aim of this work was to further evaluate CACNG3 as a susceptibility locus by linkage and association analysis. Assuming locus heterogeneity, a significant HLOD score (HLOD=3.54, α=0.62) was obtained for markers encompassing CACNG3 in 65 nuclear families with a proband with CAE. The maximum non-parametric linkage score was 2.87 (P
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U2 - 10.1038/sj.ejhg.5201783
DO - 10.1038/sj.ejhg.5201783
M3 - Article
C2 - 17264864
AN - SCOPUS:33947634518
VL - 15
SP - 463
EP - 472
JO - European Journal of Human Genetics
JF - European Journal of Human Genetics
SN - 1018-4813
IS - 4
ER -