Gardos channelopathy: functional analysis of a novel KCNN4 variant

•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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Published in:Blood advances 2020-12, Vol.4 (24), p.6336-6341
Main Authors: Fermo, Elisa, Monedero-Alonso, David, Petkova-Kirova, Polina, Makhro, Asya, Pérès, Laurent, Bouyer, Guillaume, Marcello, Anna Paola, Longo, Filomena, Graziadei, Giovanna, Barcellini, Wilma, Bogdanova, Anna, Egee, Stephane, Kaestner, Lars, Bianchi, Paola
Format: Article
Language:English
Subjects:
Cellular Biology
Channelopathies
Erythrocytes
Exceptional Case Report
Hematology
Human health and pathology
Humans
Infectious diseases
Life Sciences
Microbiology and Parasitology
Mutation, Missense
Parasitology
Subcellular Processes
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container_issue 24
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container_title Blood advances
container_volume 4
creator Fermo, Elisa
Monedero-Alonso, David
Petkova-Kirova, Polina
Makhro, Asya
Pérès, Laurent
Bouyer, Guillaume
Marcello, Anna Paola
Longo, Filomena
Graziadei, Giovanna
Barcellini, Wilma
Bogdanova, Anna
Egee, Stephane
Kaestner, Lars
Bianchi, Paola
description •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.
doi_str_mv 10.1182/bloodadvances.2020003285
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source ScienceDirect Journals; PMC
subjects Cellular Biology
Channelopathies
Erythrocytes
Exceptional Case Report
Hematology
Human health and pathology
Humans
Infectious diseases
Life Sciences
Microbiology and Parasitology
Mutation, Missense
Parasitology
Subcellular Processes
title Gardos channelopathy: functional analysis of a novel KCNN4 variant
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