Population
Human embryonic kidney cells expressing recombinant human skeletal muscle voltage-gated Na channel mutations…
Comparison
Exposure to different temperatures vs Wild-type channel and comparison between the two…
Design
Preclinical
Authors
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Biophysical differences may underlie variable cold sensitivity; leaves open translation from animal models to human channelopathies.
The R1448H mutation causes stronger cold-induced clinical symptoms than the M1360V mutation due to a more pronounced slowing of inactivation, faster recovery, and a shift in voltage dependence of activation at lower temperatures.
Mohammadi et al. (2003) studied this question.
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