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

• Published in: Nature neuroscience Vol. 14; no. 1; p. 77
• Main Authors: 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
• Format: Journal Article
• Language: English
• Published: United States 01.01.2011
• Subjects: Adolescent; Adult; Bradycardia - genetics; Bradycardia - physiopathology; Calcium Channels, L-Type - genetics; Calcium Channels, L-Type - physiology; Channelopathies - genetics; Channelopathies - physiopathology; Deafness - congenital; Deafness - genetics; Deafness - physiopathology; Female; Hair Cells, Auditory, Inner - physiology; Haplotypes; HEK293 Cells; Humans; Male; Mutation; Pedigree; Protein Isoforms - genetics; Protein Isoforms - physiology; Sinoatrial Node - physiology; Syndrome; Transfection - methods

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...