Article

Atomic-Level Investigation of <i>KCNJ2</i> Mutations Associated with Ventricular Arrhythmic Syndrome Phenotypes

2024-10-03

Abstract excerpt

KCNJ2 encodes the inward rectifying potassium channel (Kir2.1) that creates I K1 which maintains the cardiac resting membrane potential and regulates excitability. Mutations in KCNJ2 have been linked to several clinical phenotypes associated with ventricular arrhythmia and sudden death including Andersen-Tawil syndrome (ATS) related to loss of function mutations and Short QT Syndrome 3 related to gain of functi...

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Literature Corpus work: 85178a7a-965d-58fd-9009-9fb8e195c80b
DOI: 10.1101/2024.10.01.616187

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