Portal de Periódicos da CAPES

Gardos channelopathy: functional analysis of a novel KCNN4 variant

2020; Elsevier BV; Volume: 4; Issue: 24 Linguagem: Inglês

10.1182/bloodadvances.2020003285

2473-9537

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,

Cardiac electrophysiology and arrhythmias

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.