Article
In-silico investigations of the functional impact of KCNA5 mutations on atrial mechanical dynamics.
Journal of molecular and cellular cardiology - 1 Oct 2017
Ni Haibo, Adeniran Ismail, Zhang Henggui
Abstract excerpt
A recent study has identified six novel genetic variations (D322H, E48G, A305T, D469E, Y155C, P488S) in KCNA5 (encoding Kv1.5 which carries the atrial-specific ultra-rapid delayed rectifier current, IKur) in patients with early onset of lone atrial fibrillation. These mutations are distinctive, resulting in either gain-of-function (D322H, E48G, A305T) or loss-of-function (D469E, Y155C, P488S) of IKur channels....
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