Key result
Novel KCNN4 p.S314P variant is a gain-of-function mutation less severe than p.R352H in Gardos channelopathy.
Why the study?
The diagnosis of Gardos channelopathy is challenging due to clinical heterogeneity, blurred symptoms, and absence of specific diagnostic markers.
Key points are not available for this paper at this time.
Comparison
Novel KCNN4 variant p.S314P vs previously reported p.R352H variant
Design
Functional analysis
p.S314P may refine KCNN4 variant classification; extends mutational spectrum but leaves diagnostic standardization open.
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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Fermo et al. (2020) studied this question. The novel KCNN4 variant p.S314P is a gain-of-function mutation that is less severe than the previously reported p.R352H variant associated with Gardos channelopathy.
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