Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis

Louis J. Ptacek*, Launce Gouw, Hubert Kwieciński, Philip McManis, Jerry R. Mendell, Richard J. Barohn, Aflfred L. George, Rebert L. Barchi, Margaret Robertson, Mark F. Leppert

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

108 Scopus citations


Clinical and electrophysiological data have outlined a spectrum of similar yet distinct periodic paralyses, including potassium‐sensitive (hyperkalemic periodic paralysis [HYPP]) and temperature‐sensitive (paramyotonia congenita [PC]) forms. Recent work has revealed that these disorders result from allelic defects in the x‐subunit of the adult, human skeletal muscle sodium channel. We report an additional mutation, a leucine ‐ arginine substirution in the ss segment of domain 4 (L1433R), that results in the PC phenotype. Five other HYPP and PC families have been ascertained, and previously reported sodium channel mutations have been identified in each. Characterization of these mutartions and phenotypic variations in such familes will contribute to the understanding of sodium channel structure and function relationships, as well as channel malfunction in the periodic paralyses.

Original languageEnglish (US)
Pages (from-to)300-307
Number of pages8
JournalAnnals of neurology
Issue number3
StatePublished - Mar 1993

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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