Gardos channelopathy: functional analysis of a novel KCNN4 variant

Abstract excerpt

Key Points We show that the novel KCNN4 variant p.S314P is a gain-of-function mutation but is less severe than the previously reported p.R352H variant. The clinical heterogeneity, blurred symptoms, and absence of specific diagnostic markers make the diagnosis of Gardos channelopathy challenging.

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• Share to Cardiac electrophysiology and arrhythmias
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