Pathogenic KCNH2-G53S variant in the PAS domain influences the electrophysiological phenotype in long QT syndrome type 2
Our analysis of hiPSC-CMs carrying a heterozygous KCNH2<sup>G53S</sup> mutation, which showed abnormal electrophysiology and impaired calcium handling, provides a basis for developing improved management strategies for patients with LQT2.
Authors
- Dasom Mun (ORCID: https://orcid.org/0000-0002-4636-1536)
- Malgeum Park
- Boyoung Joung (ORCID: https://orcid.org/0000-0001-9036-7225)
- Nuri Yun (ORCID: https://orcid.org/0000-0003-1853-1304)
- You Mi Hwang (ORCID: https://orcid.org/0000-0001-8385-6485)
- Jiyoung Kang (ORCID: https://orcid.org/0000-0003-2893-1512)
- Gyeongseo Yoo
Institutions
- Yonsei University (KR)
- Incheon Medical Center (KR)
- Catholic University of Korea (KR)
Publication Details
- Journal
- Frontiers in Cardiovascular Medicine
- Published
- 2025-04-09
- DOI
- https://doi.org/10.3389/fcvm.2025.1524909
- Citations
- 2
- Primary Topic
- Cardiac electrophysiology and arrhythmias
- Type
- article
- Field-Weighted Citation Impact
- 2.78