Pathogenic KCNH2-G53S variant in the PAS domain influences the electrophysiological phenotype in long QT syndrome type 2

Pathogenic KCNH2-G53S variant in the PAS domain influences the electrophysiological phenotype in long QT syndrome type 2

BackgroundLong QT syndrome type 2 (LQT2) is an arrythmia caused by loss-of-function mutations in KCNH2, leading to impaired Kv11.1 channel function.ObjectiveTo better understand LQT2, we examined the electrophysiological differences related to the G53S variant, which is located within the PAS domain...

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Bibliographic Details
Main Authors: Dasom Mun, Ji-Young Kang, Malgeum Park, Gyeongseo Yoo, Nuri Yun, YouMi Hwang, Boyoung Joung
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-04-01
Series:Frontiers in Cardiovascular Medicine
Subjects:
long QT syndrome type 2
KCNH2G53S
PAS domain
variant
hiPSC-CMs
Online Access:https://www.frontiersin.org/articles/10.3389/fcvm.2025.1524909/full
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https://www.frontiersin.org/articles/10.3389/fcvm.2025.1524909/full

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