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March 18, 2005The Journal of PhysiologyOpen Access

A C‐terminal skeletal muscle sodium channel mutation associated with myotonia disrupts fast inactivation

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Population

A patient with cold-aggravated myotonia lacking common SCN4A mutations, and transiently transfected HEK293…

Comparison

Expression of novel SCN4A missense mutations… vs Wild-type (WT) SCN4A channels.

Design

Preclinical

Authors

FWFenfen WuUniversity of California, Los AngelesEGErynn S. GordonHuman Genome Sciences (United States)EHEric P. HoffmanAGADA Biosciences

Discussion

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Implication

May link F1705I to myotonia via channel dysfunction; leaves open human disease causality and needs clinical validation.

Structured PICO

P
Population
A patient with cold-aggravated myotonia lacking common SCN4A mutations, and transiently transfected HEK293 cells used for functional assessment.
I
Intervention
Expression of novel SCN4A missense mutations T323M and F1705I.
C
Comparator
Wild-type (WT) SCN4A channels.
O
Outcome
Functional impact on whole-cell Na+ currents (fast inactivation, voltage dependence, rate of inactivation).surrogate

The novel F1705I mutation in the C-terminus of SCN4A disrupts fast inactivation of sodium channels, providing the first example of a C-terminal mutation in this gene associated with human myotonia.

Cite This Study

Wu et al. (2005) studied this question.

synapsesocial.com/papers/6a70a248ac440176ef294cb2https://doi.org/10.1113/jphysiol.2005.082909
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Also Consider

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

  1. 1Human sodium channel gating defects caused by missense mutations in S6 segments associated with myotonia: S804F and V1293I1998 · 54 citations
  2. 2Inactivation defects caused by myotonia-associated mutations in the sodium channel III-IV linker.1996 · 132 citations
  3. 3Defective slow inactivation of sodium channels contributes to familial periodic paralysis1999 · 122 citations
  4. 4Secondary Structure of the Human Cardiac Na+ Channel C Terminus2002 · 131 citations
  5. 5Biophysical phenotypes of <i>SCN5A</i> mutations causing long QT and Brugada syndromes2000 · 74 citations