Dominant-negative effects of human P/Q-type Ca2+ channel mutations associated with episodic ataxia type 2.

@article{Jeng2006DominantnegativeEO,
  title={Dominant-negative effects of human P/Q-type Ca2+ channel mutations associated with episodic ataxia type 2.},
  author={C Jeng and Yu-Ting Chen and Y Chen and C H Tang},
  journal={American journal of physiology. Cell physiology},
  year={2006},
  volume={290 4},
  pages={C1209-20}
}
Episodic ataxia type 2 (EA2) is an inherited autosomal dominant disorder related to cerebellar dysfunction and is associated with mutations in the pore-forming alpha(1A)-subunits of human P/Q-type Ca(2+) channels (Cav2.1 channels). The majority of EA2 mutations result in significant loss-of-function phenotypes. Whether EA2 mutants may display dominant-negative effects in human, however, remains controversial. To address this issue, five EA2 mutants in the long isoform of human alpha(1A… CONTINUE READING
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