A new Kv1.2 channelopathy underlying cerebellar ataxia.

@article{Xie2010ANK,
  title={A new Kv1.2 channelopathy underlying cerebellar ataxia.},
  author={Gang Xie and John Harrison and Steven J Clapcote and Yun Huang and Jin-yi Zhang and L Y Wang and John C. C. Roder},
  journal={The Journal of biological chemistry},
  year={2010},
  volume={285 42},
  pages={32160-73}
}
A forward genetic screen of mice treated with the mutagen ENU identified a mutant mouse with chronic motor incoordination. This mutant, named Pingu (Pgu), carries a missense mutation, an I402T substitution in the S6 segment of the voltage-gated potassium channel Kcna2. The gene Kcna2 encodes the voltage-gated potassium channel α-subunit Kv1.2, which is abundantly expressed in the large axon terminals of basket cells that make powerful axo-somatic synapses onto Purkinje cells. Patch clamp… CONTINUE READING