Functional analysis of Ca3.2 T-type calcium channel mutations linked to childhood absence epilepsy.

@article{Peloquin2006FunctionalAO,
  title={Functional analysis of Ca3.2 T-type calcium channel mutations linked to childhood absence epilepsy.},
  author={Jean B. Peloquin and Houman Khosravani and Wendy Brooks Barr and Chris Bladen and Rhian M Evans and Janette Mezeyova and David Parker and Terrance P. Snutch and John E. McRory and Gerald W Zamponi},
  journal={Epilepsia},
  year={2006},
  volume={47 3},
  pages={655-8}
}
PURPOSE Childhood absence epilepsy (CAE) is an idiopathic form of seizure disorder that is believed to have a genetic basis. METHODS We examined the biophysical consequences of seven mutations in the Ca(v)3.2 T-type calcium channel gene linked to CAE. RESULTS Of the channel variants examined, one of the mutants, a replacement of glycine 848 in the domain II-S2 region with serine, resulted in significant slowing of the time courses of both activation and inactivation across a wide range of… CONTINUE READING

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