Sodium channel defects in myotonia and periodic paralysis

Annu Rev Neurosci. 1996;19:141-64. doi: 10.1146/annurev.ne.19.030196.001041.

Abstract

Myotonias and periodic paralyses constitute a diverse group of inherited disorders of muscle in which the primary defect is an alteration in the electrical excitability of the muscle fiber. The ion channel defects underlying these excitability derangements have recently been elucidated at the molecular and functional levels. This review focuses on sodium channel mutations that disrupt inactivation and thereby cause both the enhanced excitability of myotonia (muscle stiffness due to repetitive discharges) and the inexcitability resulting from depolarization during attacks of paralysis.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Animals
  • Calcium Channels / genetics
  • Calcium Channels, L-Type
  • Chloride Channels / genetics
  • Humans
  • Muscle, Skeletal / physiopathology
  • Myotonia / classification
  • Myotonia / genetics
  • Myotonia / physiopathology*
  • Myotonin-Protein Kinase
  • Paralyses, Familial Periodic / classification
  • Paralyses, Familial Periodic / genetics
  • Paralyses, Familial Periodic / physiopathology*
  • Point Mutation*
  • Protein Kinases / genetics
  • Protein Structure, Secondary
  • Protein-Serine-Threonine Kinases*
  • Sodium Channels / chemistry
  • Sodium Channels / genetics*
  • Sodium Channels / physiology
  • Trinucleotide Repeats

Substances

  • Calcium Channels
  • Calcium Channels, L-Type
  • Chloride Channels
  • DMPK protein, human
  • Sodium Channels
  • Protein Kinases
  • Myotonin-Protein Kinase
  • Protein-Serine-Threonine Kinases