Gain-of-function mutations in the calcium channel CACNA1C (Cav1.2) cause non-syndromic long-QT but not Timothy syndrome.

@article{Wemhner2015GainoffunctionMI,
  title={Gain-of-function mutations in the calcium channel CACNA1C (Cav1.2) cause non-syndromic long-QT but not Timothy syndrome.},
  author={Konstantin Wemh{\"o}ner and Corinna Friedrich and Birgit Stallmeyer and Alison J. Coffey and Andrew A. Grace and Sven Zumhagen and Guiscard Seebohm and Beatriz Ortiz-Bonnin and Susanne Rinn{\'e} and Frank B. Sachse and Eric Schulze-Bahr and Niels Decher},
  journal={Journal of molecular and cellular cardiology},
  year={2015},
  volume={80},
  pages={186-95}
}
Gain-of-function mutations in CACNA1C, encoding the L-type Ca(2+) channel Cav1.2, cause Timothy syndrome (TS), a multi-systemic disorder with dysmorphic features, long-QT syndrome (LQTS) and autism spectrum disorders. TS patients have heterozygous mutations (G402S and G406R) located in the alternatively spliced exon 8, causing a gain-of-function by reduced voltage-dependence of inactivation. Screening 540 unrelated patients with non-syndromic forms of LQTS, we identified six functional relevant… CONTINUE READING
Recent Discussions
This paper has been referenced on Twitter 1 time over the past 90 days. VIEW TWEETS

From This Paper

Figures, tables, and topics from this paper.

Citations

Publications citing this paper.
Showing 1-10 of 13 extracted citations

References

Publications referenced by this paper.
Showing 1-10 of 43 references

Calcium in fl ux through L - type Cav 1 . 2 Ca 2 + channels regulates mandibular development

  • KV Ramachandran
  • J Clin Invest
  • 2014

Similar Papers

Loading similar papers…