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A Novel Mutation in KCNQ1 Associated with a Potent Dominant Negative Effect as the Basis for the LQT1 Form of the Long QT Syndrome

โœ Scribed by YOSHIYASU AIZAWA; KAZUO UEDA; FABIANA SCORNIK; JONATHAN M. CORDEIRO; YUESHENG WU; MAYURIKA DESAI; ALEJANDRA GUERCHICOFF; YASUTOSHI NAGATA; YOSHITO IESAKA; AKINORI KIMURA; MASAYASU HIRAOKA; CHARLES ANTZELEVITCH

Book ID
109207796
Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
256 KB
Volume
18
Category
Article
ISSN
1540-8167

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A Novel mutation L619F in the cardiac Na
A Novel mutation L619F in the cardiac Na+ channel SCN5A associated with long-QT syndrome (LQT3): a role for the I-II linker in inactivation gating
โœ Xander H.T. Wehrens; Tom Rossenbacker; Roselie J. Jongbloed; Marc Gewillig; Hein ๐Ÿ“‚ Article ๐Ÿ“… 2003 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 327 KB

Congenital long QT syndrome type 3 (LQT3) is caused by mutations in the gene SCN5A encoding the alpha-subunit of the cardiac Na(+) channel (Nav1.5). Functional studies of SCN5A mutations in the linker between domains III and IV, and more recently the C-terminus, have been shown to alter inactivation