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February 24, 1998CirculationOpen Access

Phenotypic Characterization of a Novel Long-QT Syndrome Mutation (R1623Q) in the Cardiac Sodium Channel

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Population

Human cardiac sodium channel (hH1) expressing the R1623Q mutation

Comparison

Electrophysiological characterization using… vs Autosomal dominant LQT3 mutations

Design

Preclinical

Authors

NKNicholas G. KambourisMedStar Washington Hospital CenterHNHanne NussNational Institute on AgingDJDavid C. JohnsAmgen (United States)

Discussion

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Implication

Lidocaine may correct R1623Q sodium defects in models; leaves open clinical translation and patient benefit.

Structured PICO

P
Population
Human cardiac sodium channel (hH1) expressing the R1623Q mutation
I
Intervention
Electrophysiological characterization using whole-cell and single-channel recordings, and application of lidocaine
C
Comparator
Autosomal dominant LQT3 mutations
O
Outcome
Sodium current decay and channel opening probabilitysurrogate

The R1623Q mutation causes a severe long-QT phenotype through unique inactivation gating defects that prolong sodium current decay, which can be reversed by lidocaine.

Cite This Study

Kambouris et al. (1998) studied this question.

synapsesocial.com/papers/6a7f04239c386d2805f00cf3https://doi.org/10.1161/01.cir.97.7.640
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Characterization of human cardiac Na <sup>+</sup> channel mutations in the congenital long QT syndrome1996 · 267 citations
  2. 2Pharmacological targeting of long QT mutant sodium channels.1997 · 174 citations
  3. 3Lidocaine Block of LQT-3 Mutant Human Na <sup>+</sup> Channels1996 · 114 citations
  4. 4Sodium Channel Block With Mexiletine Is Effective in Reducing Dispersion of Repolarization and Preventing Torsade de Pointes in LQT2 and LQT3 Models of the Long-QT Syndrome1997 · 529 citations
  5. 5A de novo missense mutation (R1623Q) of the SCN5A gene in a Japanese girl with sporadic long QT syndrome1998 · 35 citations