Functional expression of sodium channel mutations identified in families with periodic paralysis

Stephen C. Cannon, Stephen M. Strittmatter

Research output: Contribution to journalArticle

174 Scopus citations

Abstract

Two mutations in the sodium channel α subunit that have been implicated as the cause of periodic paralysis were studied by functional expression in a mammalian cell line. Both mutations disrupted inactivation without affecting the time course of the onset of the sodium current or the single-channel conductance. This is the same functional defect that was observed in myotubes cultured from affected patients and proves that these mutations are not benign polymorphisms. Unlike the currents in the myotubes, however, there was no consistent potassium dependence for the noninactivating component. These mutations also define new regions of the sodium channel α subunit that are involved in the process of inactivation.

Original languageEnglish (US)
Pages (from-to)317-326
Number of pages10
JournalNeuron
Volume10
Issue number2
DOIs
StatePublished - Feb 1993

ASJC Scopus subject areas

  • Neuroscience(all)

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