March 31, 2003Human Mutation

A Novel mutation L619F in the cardiac Na channel SCN5A associated with long-QT syndrome (LQT3): a role for the I-II linker in inactivation gating

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Population

Transiently expressed HEK cells with wild-type and mutant cardiac Na channels, identified from an infant…

Comparison

L619F mutation in the domain I-II linker of the… vs Wild-type (WT) channels

Design

Preclinical

Authors

XWXander H.T. WehrensElectrophysiology TRTom RossenbackerUniversity Medical Center Groningen RJRoselie JongbloedMaastricht University Medical Centre

Discussion

Member takes

Implication

L619F may underlie LQT3 via increased window current; leaves open human cardiomyocyte translation.

Structured PICO

Population

Transiently expressed HEK cells with wild-type (WT) and mutant (L619F) cardiac Na(+) channels (Nav1.5), identified from an infant with prolonged QTc intervals.

Intervention

L619F (LF) mutation in the domain I-II linker of the cardiac Na(+) channel

Comparator

Wild-type (WT) channels

Outcome

Na(+) current characteristics including maintained Na(+) current, steady state inactivation, and overlap window current measured by whole-cell patch-clamp analysissurrogate

The novel L619F mutation in the SCN5A gene alters Na(+) channel inactivation gating, increasing window and non-inactivating currents, which explains the prolonged action potential plateau and LQT3 phenotype.

Cite This Study

Wehrens et al. (2003) studied this question.

synapsesocial.com/papers/6a71a0c7439bab0cabc3a234 https://doi.org/10.1002/humu.9136

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A Novel mutation L619F in the cardiac Na channel SCN5A associated with long-QT syndrome (LQT3): a role for the I-II linker in inactivation gating

Discussion

Member takes

Implication

Structured PICO

Cite This Study

A Novel mutation L619F in the cardiac Na channel SCN5A associated with long-QT syndrome (LQT3): a role for the I-II linker in inactivation gating

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Also Consider

Also Consider