KCNH2‐L693P Causes Long QT Syndrome Type 2 Through hERG Channel Dysfunction: Functional Validation of a Variant of Uncertain Significance

ABSTRACT Background Congenital long QT syndrome (LQTS) is an inherited arrhythmia characterized by QT prolongation and increased risk of ventricular arrhythmias. Type 2 LQTS (LQT2) results from mutations in the KCNH2 gene encoding the hERG potassium channel. With the widespread use of next‐generatio...

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Detalhes bibliográficos

Principais autores:	Xi‐Fan Zheng, Qiu Chen, Xiang‐Ting Lu, Hai‐Long Dai, Xue‐Feng Guang
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Wiley 2025-11-01
coleção:	Molecular Genetics & Genomic Medicine
Assuntos:	congenital long QT syndrome gene mutation hERG KCNH2‐L693P pathogenicity
Acesso em linha:	https://doi.org/10.1002/mgg3.70155
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