Gardos channelopathy: functional analysis of a novel KCNN4 variant

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Gardos channelopathy: functional analysis of a novel KCNN4 variant

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Edité par CCSD ; The American Society of Hematology -

International audience. 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.

Langue: en

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