Published in
American Society of Hematology, Blood Advances, 24(4), p. 6336-6341, 2020
DOI: 10.1182/bloodadvances.2020003285
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Gardos channelopathy: functional analysis of a novel KCNN4 variant
Journal article published in 2020 by
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,
Stephane Egee,
Lars Kaestner,
Paola Bianchi
,
Guillaume Bouyer,
Anna Paola Marcello,
Filomena Longo ,
Giovanna Graziadei,
Wilma Barcellini,
Anna Bogdanova,
Stephane Egee,
Lars Kaestner,
Paola Bianchi
This paper is made freely available by the publisher.
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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.