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Article

Loss of Ca(v)1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness.

Nature neuroscience - 1 Jan 2011

Baig Shahid M, Koschak Alexandra, Lieb Andreas, Gebhart Mathias, Dafinger Claudia, Nürnberg Gudrun, Ali Amjad, Ahmad Ilyas, Sinnegger-Brauns Martina J, Brandt Niels, Engel Jutta, Mangoni Matteo E, Farooq Muhammad, Khan Habib U, Nürnberg Peter, Striessnig Jörg, Bolz Hanno J

Abstract excerpt

Deafness is genetically very heterogeneous and forms part of several syndromes. So far, delayed rectifier potassium channels have been linked to human deafness associated with prolongation of the QT interval on electrocardiograms and ventricular arrhythmia in Jervell and Lange-Nielsen syndrome. Ca(v)1.3 voltage-gated L-type calcium channels (LTCCs) translate sound-induced depolarization into neurotransmitter...

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Identifiers

PMID: 21131953
DOI: 10.1038/nn.2694

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