CaV1.2 Calcium Channel Dysfunction Causes a Multisystem Disorder Including Arrhythmia and Autism

  title={CaV1.2 Calcium Channel Dysfunction Causes a Multisystem Disorder Including Arrhythmia and Autism},
  author={Igor Splawski and Katherine W. Timothy and Leah M. Sharpe and Niels Decher and Pradeep Kumar and Raffaella Bloise and Carlo Napolitano and Peter J. Schwartz and Robert M. Joseph and Karen Condouris and Helen Tager-Flusberg and Silvia G. Priori and Michael C Sanguinetti and Mark T. Keating},
Ca(V)1.2, the cardiac L-type calcium channel, is important for excitation and contraction of the heart. Its role in other tissues is unclear. Here we present Timothy syndrome, a novel disorder characterized by multiorgan dysfunction including lethal arrhythmias, webbing of fingers and toes, congenital heart disease, immune deficiency, intermittent hypoglycemia, cognitive abnormalities, and autism. In every case, Timothy syndrome results from the identical, de novo Ca(V)1.2 missense mutation… CONTINUE READING
Highly Influential
This paper has highly influenced 40 other papers. REVIEW HIGHLY INFLUENTIAL CITATIONS


Publications citing this paper.
Showing 1-10 of 438 extracted citations


Publications referenced by this paper.
Showing 1-10 of 58 references

Postnatal neurodevelopmental disorders : meet - of cell death : the calcium - apoptosis link

  • H. Y. Zoghbi
  • Nat . Rev . Mol . Cell Biol . ing at the synapse…
  • 2003

The amino - acidtional expression of the cardiac dihydropyridine - sensitive calcium mutational spectrum of human genetic disease . Genome Biol . 4 , channel

  • C. Sander, G. M. Church
  • Nature
  • 2003

Similar Papers

Loading similar papers…