A novel Nav1.7 mutation producing carbamazepine-responsive erythromelalgia
Fischer TZ et al. - These results demonstrate a normalizing effect of CBZ on mutant Nav1.7 channels in this kindred with CBZ-responsive inherited erythromelalgia. The selective effect of CBZ on the mutant Nav1.7 channel appears to explain the ameliorative response to treatment in this kindred. These results suggest that functional expression and pharmacological studies may provide mechanistic insights into hereditary painful disorders. [more...]
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