Gardos channelopathy: functional analysis of a novel <i>KCNN4</i> variant
Elisa Fermo, David Monedero Alonso, Polina Petkova‐Kirova, Asya Makhro, Laurent Pérès, Guillaume Bouyer, Anna Paola Marcello, Filomena Longo, Giovanna Graziadei, Wilma Barcellini, Anna Bogdanova, Stéphane Égée, Lars Kaestner, Paola Bianchi
Abstract
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.
Topics & Concepts
ChannelopathyMutationGain of functionFunction (biology)MedicineKey (lock)Internal medicineGeneticsBiologyGeneEcologyIon channel regulation and functionErythrocyte Function and PathophysiologyCardiac electrophysiology and arrhythmias