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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Bibliographic Details
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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Description
Summary:•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.
ISSN:2473-9529
2473-9537
DOI:10.1182/bloodadvances.2020003285