Original Article

A novel Nav1.7 mutation producing carbamazepine-responsive erythromelalgia†

  1. Tanya Z. Fischer MD, PhD1,2,3,‡,
  2. Elaine S. Gilmore MD, PhD2,3,4,‡,
  3. Mark Estacion PhD1,2,3,
  4. Emmanuella Eastman BS1,2,3,
  5. Sean Taylor MD5,
  6. Michel Melanson MD5,
  7. Sulayman D. Dib-Hajj PhD1,2,3,
  8. Stephen G. Waxman MD, PhD1,2,3,*

Article first published online: 23 MAR 2009

DOI: 10.1002/ana.21678

Issue

Annals of Neurology

Annals of Neurology

Volume 65, Issue 6, pages 733–741, June 2009

Additional Information

How to Cite

Fischer, T. Z., Gilmore, E. S., Estacion, M., Eastman, E., Taylor, S., Melanson, M., Dib-Hajj, S. D. and Waxman, S. G. (2009), A novel Nav1.7 mutation producing carbamazepine-responsive erythromelalgia. Ann Neurol., 65: 733–741. doi: 10.1002/ana.21678

Author Information

  1. 1

    Department of Neurology, Yale University School of Medicine, New Haven

  2. 2

    Center for Neuroscience & Regeneration Research, Yale University School of Medicine, New Haven

  3. 3

    Rehabilitation Research Center, Veterans Affairs Connecticut Healthcare System, West Haven

  4. 4

    Department of Dermatology, Yale University School of Medicine, New Haven, CT

  5. 5

    Department of Neurology, Kingston General Hospital, Kingston, Ontario, Canada

  1. ‡

    T.Z.F. and E.S.G. contributed equally to this work.

*Department of Neurology, LCI 707, Yale School of Medicine, 333 Cedar Street, New Haven, CT 06510

  1. †

    Potential conflict of interest: Nothing to report.

Publication History

  1. Issue published online: 25 JUN 2009
  2. Article first published online: 23 MAR 2009
  3. Accepted manuscript online: 23 MAR 2009 12:00AM EST
  4. Manuscript Accepted: 13 FEB 2009
  5. Manuscript Revised: 12 FEB 2009
  6. Manuscript Received: 22 SEP 2008

Funded by

  • Medical Research Service and Rehabilitation Research Service, Department of Veterans Affairs
  • National Multiple Sclerosis Society. Grant Number: RG-1912
  • Erythromelalgia Association

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