Different effects on gating of three myotonia‐causing mutations in the inactivation gate of the human muscle sodium channel.
Population
Human embryonic kidney cells expressing recombinant wildtype and mutant human Na+ channels
Comparison
Mutations G1306E, G1306V, and G1306A in the… vs Recombinant wildtype (WT) human Na+ channels
Design
Preclinical
Authors
Discussion
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Implication
Gating defects correlate with myotonia severity in models; hypothesis-generating for human genotype-phenotype studies.
Structured PICO
P
Population
Human embryonic kidney cells (HEK293) expressing recombinant wildtype and mutant (G1306E, G1306V, G1306A) human Na+ channels
I
Intervention
Mutations G1306E, G1306V, and G1306A in the inactivation gate of the alpha-subunit of the human muscle Na+ channel
C
Comparator
Recombinant wildtype (WT) human Na+ channels
O
Outcome
Channel gating properties including time constants of inactivation, steady-state to peak current ratios, steady-state inactivation curves, and activation/deactivation kineticssurrogate
Mutations in the Na+ channel inactivation gate alter both inactivation and activation kinetics, with the severity of the gating defects correlating with the clinical severity of the myotonia phenotypes.
Cite This Study
Mitrovié et al. (1995) studied this question.