February 13, 1998FEBS Letters

A de novo missense mutation of human cardiac Na+ channel exhibiting novel molecular mechanisms of long QT syndrome

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Population

Oocytes expressing a de novo missense mutation in the human cardiac Na+ channel gene identified in an infant…

Comparison

Expression and electrophysiological… vs Three previously characterized LQT3 mutations

Design

Preclinical

Authors

NMNaomasa MakitaElectrophysiology NSNobumasa ShiraiHokkaido University MNMasato NagashimaOno Clinic

Discussion

Member takes

Implication

Does not alter LQT3 management; leaves open whether this Na+ channel mechanism translates to human disease or therapy.

Structured PICO

Population

Oocytes expressing a de novo missense mutation (R1623Q) in the human cardiac Na+ channel gene (SCN5A) identified in an infant Japanese girl with severe LQT3

Intervention

Expression and electrophysiological characterization of R1623Q mutant Na+ channels

Comparator

Three previously characterized LQT3 mutations

Outcome

Channel activation, macroscopic inactivation, and single channel open timessurrogate

The R1623Q mutation in SCN5A causes severe LQT3 via a novel mechanism of delayed macroscopic inactivation and prolonged open times with bursting behavior.

Cite This Study

Makita et al. (1998) studied this question.

synapsesocial.com/papers/6a7cd1a5daebf5ddd2adc8cb https://doi.org/10.1016/s0014-5793(98)00033-7

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A de novo missense mutation of human cardiac Na+ channel exhibiting novel molecular mechanisms of long QT syndrome

Discussion

Member takes

Implication

Structured PICO

Cite This Study

A de novo missense mutation of human cardiac Na+ channel exhibiting novel molecular mechanisms of long QT syndrome

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Also Consider

Also Consider