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February 2021; 7 (1) ArticleOpen Access

Trigeminal Neuralgia TRPM8 Mutation

Enhanced Activation, Basal [Ca2+]i and Menthol Response

Roberta Gualdani, Jun-Hui Yuan, Philip R. Effraim, Giulia Di Stefano, Andrea Truini, Giorgio Cruccu, Sulayman D. Dib-Hajj, Philippe Gailly, Stephen G. Waxman
First published January 11, 2021, DOI: https://doi.org/10.1212/NXG.0000000000000550
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Article Information

vol. 7 no. 1 e550
DOI: 
https://doi.org/10.1212/NXG.0000000000000550
Published By: 
Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology
Online ISSN: 
2376-7839
History: 
  • Received August 11, 2020
  • Accepted in final form November 9, 2020
  • First Published January 11, 2021.
Copyright & Usage: 
Copyright © 2021 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology. This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License 4.0 (CC BY-NC-ND), which permits downloading and sharing the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal.

Author Disclosures

    1. Roberta Gualdani, PhD* (roberta.gualdani{at}uclouvain.be),
    2. Jun-Hui Yuan, MD, PhD* (jun-hui.yuan{at}yale.edu),
    3. Philip R. Effraim, MD, PhD (philip.effraim{at}yale.edu),
    4. Giulia Di Stefano, MD (giulia.distefano{at}uniroma1.it),
    5. Andrea Truini, MD (andrea.truini{at}uniroma1.it),
    6. Giorgio Cruccu, MD, PhD (giorgio.cruccu{at}uniroma1.it),
    7. Sulayman D. Dib-Hajj, PhD (sulayman.dib-hajj{at}yale.edu),
    8. Philippe Gailly, MD, PhD (philippe.gailly{at}uclouvain.be) and
    9. Stephen G. Waxman, MD, PhD
  1. Roberta Gualdani, PhD* (roberta.gualdani{at}uclouvain.be),
    2. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. NONE

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. NONE

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. NONE

    Research Support, Government Entities:

    1. NONE

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. NONE

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. NONE

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  2. Jun-Hui Yuan, MD, PhD* (jun-hui.yuan{at}yale.edu),
    3. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. NONE

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. NONE

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. NONE

    Research Support, Government Entities:

    1. NONE

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. NONE

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. NONE

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  3. Philip R. Effraim, MD, PhD (philip.effraim{at}yale.edu),
    4. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. NONE

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. NONE

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. NONE

    Research Support, Government Entities:

    1. Department of Veterans Affairs, 1IK1RX003374-01A1, Principal Investigator, 2020-2022

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. NONE

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. NONE

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  4. Giulia Di Stefano, MD (giulia.distefano{at}uniroma1.it),
    5. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. NONE

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. NONE

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. NONE

    Research Support, Government Entities:

    1. NONE

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. NONE

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. NONE

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  5. Andrea Truini, MD (andrea.truini{at}uniroma1.it),
    6. Scientific Advisory Boards:

    1. Angelini, Grunenthal, Eliem Therapeutics

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. (1) Clinical Neurophysiology, Associate Editor, 2017-ongoing (2) European Journal of Pain, Editorial Board, 2017-ongoing

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. NONE

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. NONE

    Research Support, Government Entities:

    1. NONE

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. NONE

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. NONE

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  6. Giorgio Cruccu, MD, PhD (giorgio.cruccu{at}uniroma1.it),
    7. Scientific Advisory Boards:

    1. Commercial entities (pharma): (1) Angelini (advisory board for Trazodone)

    Gifts:

    1. NONE

    Funding for travel or speaker honoraria:

    1. Commercial entities (pharma): (1) Gruenenthal (speaker for 8% Capsaicin)

    Editorial Boards:

    1. NONE

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. NONE

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. NONE

    Research Support, Government Entities:

    1. NONE

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. Sapienza University, i.e. my Institution: every year I win funds for specific research projects.

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. NONE

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  7. Sulayman D. Dib-Hajj, PhD (sulayman.dib-hajj{at}yale.edu),
  8. Philippe Gailly, MD, PhD (philippe.gailly{at}uclouvain.be) and
    9. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. NONE

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. NONE

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. NONE

    Research Support, Government Entities:

    1. NONE

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. NONE

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. NONE

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  9. Stephen G. Waxman, MD, PhD
    10. Scientific Advisory Boards:

    1. SiteOne Therapeutics OliPass Therapeutics

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. NONE

    Patents:

    1. (1) Invention of sodium channel NaV1.9 (patent filed in 1998 and is held by Yale Unviersity).

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. (1) ChromoCell Pharmaceuticals (2) Amgen (3) Alynlam (4) Biogen (5) Exicure (6) Eli Lilly (7) Glaxo Smith Kline (8) Sangamo

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. (1) Pfizer (2) Convergence Pharmaceuticals

    Research Support, Government Entities:

    1. US Dept. of Veterans Affairs

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. NONE

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. NONE

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  1. From the Institute of Neuroscience (R.G., P.G.), Université catholique de Louvain, B-1200 Brussels, Belgium; Department of Neurology (J.-H.Y., S.D.D.-H., S.G.W.), Yale School of Medicine, New Haven, CT and Center for Neuroscience and Regeneration Research, Veterans Affairs Connecticut Healthcare, West Haven, CT; Department of Anaesthesiology (P.R.E.), Yale School of Medicine New Haven, CT and Center for Neuroscience and Regeneration Research, Veterans Affairs Connecticut Healthcare, West Haven, CT; and Department of Human Neuroscience (G.D.S., A.T., G.C.), Sapienza University, Rome, Italy.
  1. Correspondence
    Dr. Waxman stephen.waxman{at}yale.edu
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