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Papers of the Week

Papers: 8 May 2021 - 14 May 2021

Human Studies

2021 Feb

Neurol Genet



Trigeminal Neuralgia TRPM8 Mutation: Enhanced Activation, Basal [Ca] and Menthol Response.


Gualdani R, Yuan J-H, Effraim PR, Di Stefano G, Truini A, Cruccu G, Dib-Hajj SD, Gailly P, Waxman SG
Neurol Genet. 2021 Feb; 7(1):e550.
PMID: 33977138.


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.