Mutations in the sodium channel Nav1.7 underlie inherited erythromelalgia

Sulayman D. Dib-Hajj, Anthony M. Rush, Theodore R. Cummins, Stephen G. Waxman

Research output: Contribution to journalReview article

9 Citations (Scopus)

Abstract

Mutations in sodium channel Nav1.7, which is preferentially expressed within dorsal root ganglion and sympathetic ganglion neurons, underlie inherited erythromelalgia (IEM). IEM is characterized by severe pain in the extremities evoked by mild thermal stimuli. Functional studies have demonstrated altered biophysical properties of mutant channels, which decrease the threshold for single action potential and increase high-frequency firing in DRG neurons. IEM may be a model disease that holds lessons for other painful conditions.

Original languageEnglish (US)
Pages (from-to)343-350
Number of pages8
JournalDrug Discovery Today: Disease Mechanisms
Volume3
Issue number3
DOIs
StatePublished - Dec 1 2006

Fingerprint

Erythromelalgia
Sodium Channels
Mutation
Neurons
Sympathetic Ganglia
Diagnosis-Related Groups
Spinal Ganglia
Action Potentials
Extremities
Hot Temperature
Pain

ASJC Scopus subject areas

  • Molecular Medicine
  • Drug Discovery

Cite this

Mutations in the sodium channel Nav1.7 underlie inherited erythromelalgia. / Dib-Hajj, Sulayman D.; Rush, Anthony M.; Cummins, Theodore R.; Waxman, Stephen G.

In: Drug Discovery Today: Disease Mechanisms, Vol. 3, No. 3, 01.12.2006, p. 343-350.

Research output: Contribution to journalReview article

Dib-Hajj, Sulayman D. ; Rush, Anthony M. ; Cummins, Theodore R. ; Waxman, Stephen G. / Mutations in the sodium channel Nav1.7 underlie inherited erythromelalgia. In: Drug Discovery Today: Disease Mechanisms. 2006 ; Vol. 3, No. 3. pp. 343-350.
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