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Article Dans Une Revue Blood Advances Année : 2020

Gardos channelopathy: functional analysis of a novel KCNN4 variant

Elisa Fermo
  • Fonction : Auteur
Asya Makhro
  • Fonction : Auteur
Anna Paola Marcello
  • Fonction : Auteur
Filomena Longo
Paola Bianchi

Résumé

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.

Dates et versions

hal-03767148 , version 1 (01-09-2022)

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Citer

Elisa Fermo, David Monedero-Alonso, Polina Petkova-Kirova, Asya Makhro, Laurent Pérès, et al.. Gardos channelopathy: functional analysis of a novel KCNN4 variant. Blood Advances, 2020, 4 (24), pp.6336-6341. ⟨10.1182/bloodadvances.2020003285⟩. ⟨hal-03767148⟩
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