A novel gain-of-function sodium channel β2 subunit mutation in idiopathic small fiber neuropathy

M. Alsaloum, J.I.R. Labau, D. Sosniak, P. Zhao, R. Almomani, M. Gerrits, J.G.J. Hoeijmakers, G. Lauria, C.G. Faber, S.G. Waxman, S. Dib-Hajj*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)827-839
Number of pages13
JournalJournal of Neurophysiology
Volume126
Issue number3
DOIs
Publication statusPublished - 1 Sep 2021

Keywords

  • beta 2 subunit
  • small fiber neuropathy (SFN)
  • sodium channel beta subunits
  • tetrodotoxin-sensitive voltage-gated sodium channels
  • voltage-gated sodium (Nav) channels
  • VOLTAGE-GATED SODIUM
  • FEBRILE SEIZURES
  • PERIPHERAL NEUROPATHY
  • GENERALIZED EPILEPSY
  • DIAGNOSTIC-CRITERIA
  • NA(V)1.8 MUTATION
  • GENE
  • INACTIVATION
  • EXPRESSION
  • PAIN

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