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Article

Gain-of-function enhancer variant near KCNB1 causes familial ST-depression syndrome

18 Mar 2025

Abstract excerpt

BACKGROUND AND AIMS: Familial ST-depression syndrome (FSTD) is a recently identified inherited cardiac disease associated with arrhythmias and systolic dysfunction. The underlying genetic aetiology has remained elusive. This study aimed at finding the causative variant. METHODS: A total of 67 FSTD patients (20 families) were studied. Linkage analysis and whole-genome sequencing (WGS) were initially performed. An...

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PMID: 40208226
DOI: 10.1093/eurheartj/ehaf213

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