Association of the P441L KCNQ1 variant with severity of long QT syndrome and risk of cardiac events

Association of the P441L KCNQ1 variant with severity of long QT syndrome and risk of cardiac events

Dysfunction of potassium voltage-gated channel subfamily Q member 1 (KCNQ1) is a primary cause of long QT syndrome type 1 (LQT1). Here, we report a missense mutation P441L in KCNQ1 C-terminus of a 37-year-old woman with severe LQT1 phenotype. Variant P441L transporting to the plasma membrane and int...

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Bibliographic Details
Main Authors: Haoyang Lu, Wen Ding, Hui Xiao, Manyu Dai, Yangcheng Xue, Zhuoran Jia, Jie Guo, Mengzuo Wu, Bing Shen, Ren Zhao
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-10-01
Series:Frontiers in Cardiovascular Medicine
Subjects:
long QT syndrome
KCNQ1
IKs
channel trafficking
C-terminus mutation
Online Access:https://www.frontiersin.org/articles/10.3389/fcvm.2022.922335/full

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