Gating effects of mutations in the Cav3.2 T-type calcium channel associated with childhood absence epilepsy.

@article{Khosravani2004GatingEO,
  title={Gating effects of mutations in the Cav3.2 T-type calcium channel associated with childhood absence epilepsy.},
  author={Houman Khosravani and Christophe Altier and Brett A. Simms and Kevin S.C. Hamming and Terrance P. Snutch and Janette Mezeyova and John E. McRory and Gerald W Zamponi},
  journal={The Journal of biological chemistry},
  year={2004},
  volume={279 11},
  pages={9681-4}
}
Childhood absence epilepsy (CAE) is a type of generalized epilepsy observed in 2-10% of epileptic children. In a recent study by Chen et al. (Chen, Y., Lu, J., Pan, H., Zhang, Y., Wu, H., Xu, K., Liu, X., Jiang, Y., Bao, X., Yao, Z., Ding, K., Lo, W. H., Qiang, B., Chan, P., Shen, Y., and Wu, X. (2003) Ann. Neurol. 54, 239-243) 12 missense mutations were identified in the CACNA1H (Ca(v)3.2) gene in 14 of 118 patients with CAE but not in 230 control individuals. We have functionally… CONTINUE READING

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Annual Meeting of the Society for Neuroscience, November 10–15

  • I. Song, D. Kim, K. Jun, H. S. Shin
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