IndraLab

Statements

Mutated HCN4 activates SSS. 4 / 4
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"A missense HCN4 mutation was found to lead to impaired trafficking of the channel to the surface membrane, resulting in SSS, long QT and torsade de pointes."
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"It has been previously shown that the Hcn4 mutation could lead to SSS (Milanesi et al. 2006; Laish‐Farkash et al. 2010)."
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"To assess whether the zebrafish model discriminates benign from pathogenic variants, we tested four HCN4 mutations known to cause human SSS and four variants of unknown significance (VUS)."
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"Despite recent reports on the complications of atrial fibrillation (AF) and left ventricular noncompaction (LVNC) in patients with SSS caused by HCN4 mutations, their overall clinical spectrum remains unknown."
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