Sodium channel inactivation defects are associated with acetazolamide-exacerbated hypokalemic periodic paralysis

Saïd Bendahhou, Theodore R. Cummins, Robert C. Griggs, Ying Hui Fu, Louis J. Ptáek

Research output: Contribution to journalArticle

64 Scopus citations

Abstract

A novel mutation in a family with hypokalemic periodic paralysis is described. The mutation R672S is located in the voltage sensor segment S4 of domain II in the SCN4A gene encoding the human skeletal muscle voltage-gated sodium channel. Functional expression of the R672S channels in human embryonic kidney 293 cells revealed a small but significant hyperpolarizing shift in the steady-state fast inactivation, and a dramatic enhancement in channel slow inactivation. These two defects are mainly due to a slow recovery of the mutant channels from fast and/or slow inactivation. Our data may help explain the mechanism underlying hypokalemic periodic paralysis and the patient's worsening from acetazolamide.

Original languageEnglish (US)
Pages (from-to)417-420
Number of pages4
JournalAnnals of Neurology
Volume50
Issue number3
DOIs
StatePublished - Sep 26 2001
Externally publishedYes

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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