Identification of a Novel Genetic Variant responsible for Familial Atrial Fibrillation.

Pathogenic variant in *KCNMA1* (BK potassium channel) causing autosomal dominant familial atrial fibrillation

This Canadian Journal of Cardiology study identifies a pathogenic variant in KCNMA1, encoding the large-conductance BK potassium channel, as the cause of familial atrial fibrillation. Starting from a linkage region on chromosome 10q22-q24 in a family with autosomal dominant FAF, the gene was identified by fine mapping and sequencing, with functional data supporting pathogenicity.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

KCNMA1 is primarily known for roles in epilepsy and neurodevelopmental disorders — its implication in familial atrial fibrillation expands this gene's phenotypic spectrum and enriches the arrhythmia gene list.

Clinical impact: 3/3 · Evidence strength: 2/3 · Novelty: 2/2 · Sample size: 1/1 · Publication status: 0/1 → Total: 8/10