Linkage and mutational analysis of CLCN2 in childhood absence epilepsy

@article{Everett2007LinkageAM,
  title={Linkage and mutational analysis of CLCN2 in childhood absence epilepsy},
  author={Kate V. Everett and Barry A Chioza and J. P. Aicardi and Harald Aschauer and Oebele F. Brouwer and Petra M C Callenbach and Athanasios P. Covanis and Joseph Dooley and Olivier Dulac and Martina Durner and Orvar Eeg-Olofsson and Martha Feucht and Mogens Laue Friis and Renzo Guerrini and Armin Heils and Marianne Juel Kjeldsen and Rima Nabbout and Thomas K. Sander and Elaine C. Wirrell and Paul McKeigue and Robert M. Robinson and Nichole L. Taske and M. B. Gardiner},
  journal={Epilepsy Research},
  year={2007},
  volume={75},
  pages={145-153}
}
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, alpha=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… CONTINUE READING
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