March 1, 2003The Journal of Physiology

Mechanisms of cold sensitivity of paramyotonia congenita mutation R1448H and overlap syndrome mutation M1360V

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Population

Human embryonic kidney cells expressing recombinant human skeletal muscle voltage-gated Na+ channel…

Comparison

Exposure to different temperatures vs Wild-type (WT) channel at different temperatures

Design

Preclinical

Authors

BMBahram MohammadiEuropean Union NMNenad MitrovićUniversity of Belgrade FLFrank Lehmann‐HornUniversität Ulm

Discussion

Member takes

Implication

May explain mutation-specific cold sensitivity in channelopathies; leaves open translation to human therapeutics.

Structured PICO

Population

Human embryonic kidney cells expressing recombinant human skeletal muscle voltage-gated Na+ channel (hSkM1) mutations R1448H and M1360V

Intervention

Exposure to different temperatures

Comparator

Wild-type (WT) channel at different temperatures

Outcome

Physiological parameters of Na+ channel mutations (inactivation, recovery from inactivation, voltage dependence of activation, window current)surrogate

The R1448H mutation causes stronger cold-induced clinical symptoms than M1360V due to increased window current and shifted voltage dependence of activation at lower temperatures.

Cite This Study

Mohammadi et al. (2003) studied this question.

synapsesocial.com/papers/6a70a248ac440176ef294cb6 https://doi.org/10.1111/j..2003.t01-1-00691.x

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Mechanisms of cold sensitivity of paramyotonia congenita mutation R1448H and overlap syndrome mutation M1360V

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Mechanisms of cold sensitivity of paramyotonia congenita mutation R1448H and overlap syndrome mutation M1360V

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Also Consider

Also Consider