June 27, 2014EMBO Molecular MedicineOpen Access

Gain‐of‐function mutation in TASK ‐4 channels and severe cardiac conduction disorder

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Structured PICO

Population

1 patient with progressive and severe cardiac conduction disorder combined with idiopathic ventricular fibrillation (IVF), and in vitro models (HL-1 cells)

Intervention

Whole-exome sequencing and functional characterization of KCNK17 (TASK-4) p.Gly88Arg mutation

Comparator

Wild-type TASK-4 channels

Outcome

Electrophysiological properties of mutant TASK-4 channels (currents, surface expression, upstroke velocity in HL-1 cells)surrogate

The identification of a gain-of-function mutation in the TASK-4 channel (KCNK17) in a patient with severe conduction disorder and IVF highlights KCNK17 as a novel arrhythmia gene and supports a second-hit hypothesis in severe cases.

Discussion

No takes yet. Share an insight, caveat, or question.

Implication

Does not yet alter clinical management of conduction disease; leaves open KCNK17 as a novel arrhythmia gene pending human validation.

Cite This Study

Friedrich et al. (2014) studied this question.

synapsesocial.com/papers/69ff969eb124fe58198584bc https://doi.org/10.15252/emmm.201303783

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Gain‐of‐function mutation in TASK ‐4 channels and severe cardiac conduction disorder

Structured PICO

Discussion

Implication

Cite This Study

Gain‐of‐function mutation in TASK ‐4 channels and severe cardiac conduction disorder

Structured PICO

Discussion

Implication

Cite This Study

Also Consider

Also Consider