Ca(V)2.1 P/Q-type calcium channel alternative splicing affects the functional impact of familial hemiplegic migraine mutations: implications for calcium channelopathies.

@article{Adams2009CaV21PC,
  title={Ca(V)2.1 P/Q-type calcium channel alternative splicing affects the functional impact of familial hemiplegic migraine mutations: implications for calcium channelopathies.},
  author={Paul J. Adams and Esperanza Garc{\'i}a and Laurence S. David and Kirk J Mulatz and Si{\^a}n D Spacey and Terrance P. Snutch},
  journal={Channels},
  year={2009},
  volume={3 2},
  pages={110-21}
}
Alternative splicing is known to generate multiple functionally distinct calcium channel variants that exhibit unique spatial and temporal expression patterns. In humans, naturally occurring mutations in genes encoding calcium channel pore forming alpha(1)-subunits are associated with several severe hereditary disorders although it remains to be described whether there exists any relationship between the physiological effects of these mutations and calcium channel splice variation. In the… CONTINUE READING

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Electroencephalographic changes and seizures in familial hemiplegic migraine patients with the CACNA 1 A gene S 218 L mutation

  • YC Chan, JM Burgunder, +4 authors BK Ong
  • J Clin Neurosci
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