Analysis in a large hyperkalemic periodic paralysis pedigree supports tight linkage to a sodium channel locus

Louis J. Ptacek, Frank Tyler, James Trimmer, William S. Agnew, Mark Leppert

Research output: Contribution to journalArticle

64 Citations (Scopus)

Abstract

Hyperkalemic periodic paralysis (HYPP) is an autosomal dominant muscle disease with electrophysiological abnormalities suggesting a defect in a voltage-gated sodium channel (NaCh) gene. A human NaCh gene was recently shown to cosegregate with the disease allele in a family with HYPP. Using an independent clone, we have demonstrated close genetic linkage between an NaCh gene and the HYPP locus in another family. With physiological data demonstrating abnormal NaCh function in HYPP patients, the absence of any obligate recombinations in the two families strengthens the argument that this NaCh gene is the site of the defect in this disorder.

Original languageEnglish (US)
Pages (from-to)378-382
Number of pages5
JournalAmerican Journal of Human Genetics
Volume49
Issue number2
StatePublished - Aug 1991
Externally publishedYes

Fingerprint

Hyperkalemic Periodic Paralysis
Sodium Channels
Pedigree
Genes
Voltage-Gated Sodium Channels
Genetic Linkage
Genetic Recombination
Clone Cells
Alleles
Muscles

ASJC Scopus subject areas

  • Genetics

Cite this

Analysis in a large hyperkalemic periodic paralysis pedigree supports tight linkage to a sodium channel locus. / Ptacek, Louis J.; Tyler, Frank; Trimmer, James; Agnew, William S.; Leppert, Mark.

In: American Journal of Human Genetics, Vol. 49, No. 2, 08.1991, p. 378-382.

Research output: Contribution to journalArticle

Ptacek, LJ, Tyler, F, Trimmer, J, Agnew, WS & Leppert, M 1991, 'Analysis in a large hyperkalemic periodic paralysis pedigree supports tight linkage to a sodium channel locus', American Journal of Human Genetics, vol. 49, no. 2, pp. 378-382.
Ptacek, Louis J. ; Tyler, Frank ; Trimmer, James ; Agnew, William S. ; Leppert, Mark. / Analysis in a large hyperkalemic periodic paralysis pedigree supports tight linkage to a sodium channel locus. In: American Journal of Human Genetics. 1991 ; Vol. 49, No. 2. pp. 378-382.
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