Spectrum of sodium channel disturbances in the nondystrophic myotonias and periodic paralyses

Stephen C. Cannon

Research output: Contribution to journalArticle

59 Scopus citations

Abstract

Several heritable forms of myotonia and periodic paralysis are caused by missense mutations in the voltage-gated sodium channel of skeletal muscle. Mutations produce gain-of-function defects, either disrupted inactivation or enhanced activation. Both defects result in too much inward Na current which may either initiate pathologic bursts of action potentials (myotonia) or cause flaccid paralysis by depolarizing fibers to a refractory inexcitable state. Myotonic stiffness and periodic paralysis occur as paroxysmal attacks often triggered by environmental factors such as serum K+, cold, or exercise. Many gaps remain in our understanding of the interactions between genetic predisposition and these environmental influences. Targeted gene manipulation in animals may provide the tools to fill in these gaps.

Original languageEnglish (US)
Pages (from-to)772-779
Number of pages8
JournalKidney international
Volume57
Issue number3
DOIs
StatePublished - Jan 1 2000

Keywords

  • Electrophysiology
  • Genetic disorder
  • Hereditary disease
  • Human
  • Skeletal muscle

ASJC Scopus subject areas

  • Nephrology

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