Article
The Mutation P.T613a in the Pore Helix of the Kv 11.1 Potassium Channel is Associated with Long QT Syndrome.
Pacing and clinical electrophysiology : PACE - 1 Nov 2015
Poulsen Kristian L, Hotait Mostafa, Calloe Kirstine, Klaerke Dan A, Rebeiz Abdallah, Nemer Georges, Tejada Maria A, Refaat Marwan M
Abstract excerpt
BACKGROUND: Loss-of-function mutations in the voltage gated potassium channel Kv 11.1 have been associated with the Long QT Syndrome (LQTS) type 2. We identified the p.T613A mutation in Kv 11.1 in a family with LQTS. T613A is located in the outer part of the pore helix, a structure that is involved in C-type inactivation. Here we characterize the effect of p.T613A on the functional properties of KV 11.1. METHODS:...
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