unassigned: To assess the functional effects of a variant, c.89 G > A (p.Arg30Gln), in the transient receptor potential melastatin 8 (TRPM8) cold-sensing, nonselective cation channel, which we have previously identified in a patient with familial trigeminal neuralgia.
unassigned: We carried out Ca imaging and whole-cell patch-clamp recording.
unassigned: The mutation enhances channel activation, increases basal current amplitude and intracellular [Ca] in cells carrying the mutant channel, and enhances the response to menthol.
unassigned: We propose that Arg30Gln confers gain-of-function attributes on TRPM8, which contribute to pathogenesis of trigeminal neuralgia in patients carrying this mutation.
unassigned: To assess the functional effects of a variant, c.89 G > A (p.Arg30Gln), in the transient receptor potential melastatin 8 (TRPM8) cold-sensing, nonselective cation channel, which we have previously identified in a patient with familial trigeminal neuralgia.
unassigned: We carried out Ca imaging and whole-cell patch-clamp recording.
unassigned: The mutation enhances channel activation, increases basal current amplitude and intracellular [Ca] in cells carrying the mutant channel, and enhances the response to menthol.
unassigned: We propose that Arg30Gln confers gain-of-function attributes on TRPM8, which contribute to pathogenesis of trigeminal neuralgia in patients carrying this mutation.
