Ion-channel defects and aberrant excitability in myotonia and periodic paralysis

Stephen C. Cannon

Research output: Contribution to journalArticle

100 Citations (Scopus)

Abstract

The myotonias and periodic paralyses are a diverse group of skeletal muscle disorders that share a common pathophysiological mechanism: all are caused by derangements in the electrical excitability of the sarcolemma. Mutations within coding regions of ion-channel genes have been identified recently as the underlying molecular defects in these heritable disorders. Chloride-channel mutations cause a reduction in the resting conductance, which enhances excitability and gives rise to myotonia. By contrast, missense mutations in the L-type Ca2+ channel reduce the electrical excitability of the fiber and cause a form of periodic paralysis. Mutations of the sodium channel impair inactivation of the channel, which, depending on the type and severity of the functional defect, results in either paralysis or myotonia.

Original languageEnglish (US)
Pages (from-to)3-10
Number of pages8
JournalTrends in Neurosciences
Volume19
Issue number1
DOIs
StatePublished - Jan 1996

Fingerprint

Myotonia
Ion Channels
Paralysis
Mutation
Sarcolemma
Chloride Channels
Sodium Channels
Muscular Diseases
Missense Mutation
Skeletal Muscle
Genes

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Ion-channel defects and aberrant excitability in myotonia and periodic paralysis. / Cannon, Stephen C.

In: Trends in Neurosciences, Vol. 19, No. 1, 01.1996, p. 3-10.

Research output: Contribution to journalArticle

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