A need for exhaustive and standardized characterization of ion channels activity. The case of K_V11.1.

ABSTRACT: hERG, the pore-forming subunit of the rapid component of the delayed rectifier K⁺ current, plays a key role in ventricular repolarization. Mutations in the KCNH2 gene encoding hERG are associated with several cardiac rhythmic disorders, mainly the Long QT syndrome (LQTS) characterized by prolonged ventricular repolarization, leading to ventricular tachyarrhythmias, sometimes progressing to ventricular fibrillation and sudden death. Over the past few years, the emergence of next-generation sequencing has revealed an increasing number of genetic variants including KCNH2 variants. However, the potential pathogenicity of the majority of the variants remains unknown, thus classifying them as variants of uncertain significance or VUS. With diseases such as LQTS being ass

SUBMITTER: Alameh M 

PROVIDER: S-EPMC9968853 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature