Active calcium accumulation underlies severe weakness in a panel of mice with slow-channel syndrome.

@article{Gomez2002ActiveCA,
  title={Active calcium accumulation underlies severe weakness in a panel of mice with slow-channel syndrome.},
  author={Christopher M. Gomez and Ricardo A Maselli and Jason S. Groshong and Roberto Zayas and Robert L. Wollmann and Thierry Cens and Pierre Charnet},
  journal={The Journal of neuroscience : the official journal of the Society for Neuroscience},
  year={2002},
  volume={22 15},
  pages={6447-57}
}
Mutations affecting the gating and channel properties of ionotropic neurotransmitter receptors in some hereditary epilepsies, in familial hyperekplexia, and the slow-channel congenital myasthenic syndrome (SCCMS) may perturb the kinetics of synaptic currents, leading to significant clinical consequences. Although at least 12 acetylcholine receptor (AChR) mutations have been identified in the SCCMS, the altered channel properties critical for disease pathogenesis in the SCCMS have not been… CONTINUE READING

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Acetylcholine receptor gating in a zebrafish model for slow-channel syndrome.

The Journal of neuroscience : the official journal of the Society for Neuroscience • 2012
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