Skip to main content
NCBI home page
American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1991 Aug;49(2):378–382.

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

L J Ptacek 1, F Tyler 1, J S Trimmer 1, W S Agnew 1, M Leppert 1
PMCID: PMC1683285  PMID: 1651050

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.

Full text

PDF
378

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Barchi R. L. Myotonia. Neurol Clin. 1988 Aug;6(3):473–484. [PubMed] [Google Scholar]
  2. Bradley W. G. Adynamia episodica hereditaria. Clinical, pathological and electrophysiological studies in an affected family. Brain. 1969;92(2):345–378. doi: 10.1093/brain/92.2.345. [DOI] [PubMed] [Google Scholar]
  3. Budowle B., Baechtel F. S. Modifications to improve the effectiveness of restriction fragment length polymorphism typing. Appl Theor Electrophor. 1990;1(4):181–187. [PubMed] [Google Scholar]
  4. Feinberg A. P., Vogelstein B. "A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity". Addendum. Anal Biochem. 1984 Feb;137(1):266–267. doi: 10.1016/0003-2697(84)90381-6. [DOI] [PubMed] [Google Scholar]
  5. Fontaine B., Khurana T. S., Hoffman E. P., Bruns G. A., Haines J. L., Trofatter J. A., Hanson M. P., Rich J., McFarlane H., Yasek D. M. Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha-subunit gene. Science. 1990 Nov 16;250(4983):1000–1002. doi: 10.1126/science.2173143. [DOI] [PubMed] [Google Scholar]
  6. GAMSTORP I. Adynamia episodica hereditaria. Acta Paediatr Suppl. 1956 May;45(Suppl 108):1–126. [PubMed] [Google Scholar]
  7. Lehmann-Horn F., Küther G., Ricker K., Grafe P., Ballanyi K., Rüdel R. Adynamia episodica hereditaria with myotonia: a non-inactivating sodium current and the effect of extracellular pH. Muscle Nerve. 1987 May;10(4):363–374. doi: 10.1002/mus.880100414. [DOI] [PubMed] [Google Scholar]
  8. Litt M., Luty J., Kwak M., Allen L., Magenis R. E., Mandel G. Localization of a human brain sodium channel gene (SCN2A) to chromosome 2. Genomics. 1989 Aug;5(2):204–208. doi: 10.1016/0888-7543(89)90047-5. [DOI] [PubMed] [Google Scholar]
  9. Loughney K., Kreber R., Ganetzky B. Molecular analysis of the para locus, a sodium channel gene in Drosophila. Cell. 1989 Sep 22;58(6):1143–1154. doi: 10.1016/0092-8674(89)90512-6. [DOI] [PubMed] [Google Scholar]
  10. McManis P. G., Lambert E. H., Daube J. R. The exercise test in periodic paralysis. Muscle Nerve. 1986 Oct;9(8):704–710. doi: 10.1002/mus.880090805. [DOI] [PubMed] [Google Scholar]
  11. Nakamura Y., Lathrop M., O'Connell P., Leppert M., Barker D., Wright E., Skolnick M., Kondoleon S., Litt M., Lalouel J. M. A mapped set of DNA markers for human chromosome 17. Genomics. 1988 May;2(4):302–309. doi: 10.1016/0888-7543(88)90018-3. [DOI] [PubMed] [Google Scholar]
  12. Noda M., Ikeda T., Kayano T., Suzuki H., Takeshima H., Kurasaki M., Takahashi H., Numa S. Existence of distinct sodium channel messenger RNAs in rat brain. Nature. 1986 Mar 13;320(6058):188–192. doi: 10.1038/320188a0. [DOI] [PubMed] [Google Scholar]
  13. Noda M., Shimizu S., Tanabe T., Takai T., Kayano T., Ikeda T., Takahashi H., Nakayama H., Kanaoka Y., Minamino N. Primary structure of Electrophorus electricus sodium channel deduced from cDNA sequence. Nature. 1984 Nov 8;312(5990):121–127. doi: 10.1038/312121a0. [DOI] [PubMed] [Google Scholar]
  14. Numa S., Noda M. Molecular structure of sodium channels. Ann N Y Acad Sci. 1986;479:338–355. doi: 10.1111/j.1749-6632.1986.tb15580.x. [DOI] [PubMed] [Google Scholar]
  15. Reed K. C., Mann D. A. Rapid transfer of DNA from agarose gels to nylon membranes. Nucleic Acids Res. 1985 Oct 25;13(20):7207–7221. doi: 10.1093/nar/13.20.7207. [DOI] [PMC free article] [PubMed] [Google Scholar]
  16. Ricker K., Camacho L. M., Grafe P., Lehmann-Horn F., Rüdel R. Adynamia episodica hereditaria: what causes the weakness? Muscle Nerve. 1989 Nov;12(11):883–891. doi: 10.1002/mus.880121103. [DOI] [PubMed] [Google Scholar]
  17. Riggs J. E. The periodic paralyses. Neurol Clin. 1988 Aug;6(3):485–498. [PubMed] [Google Scholar]
  18. Rogart R. B., Cribbs L. L., Muglia L. K., Kephart D. D., Kaiser M. W. Molecular cloning of a putative tetrodotoxin-resistant rat heart Na+ channel isoform. Proc Natl Acad Sci U S A. 1989 Oct;86(20):8170–8174. doi: 10.1073/pnas.86.20.8170. [DOI] [PMC free article] [PubMed] [Google Scholar]
  19. Rüdel R., Ruppersberg J. P., Spittelmeister W. Abnormalities of the fast sodium current in myotonic dystrophy, recessive generalized myotonia, and adynamia episodica. Muscle Nerve. 1989 Apr;12(4):281–287. doi: 10.1002/mus.880120405. [DOI] [PubMed] [Google Scholar]
  20. Salkoff L., Butler A., Wei A., Scavarda N., Giffen K., Ifune C., Goodman R., Mandel G. Genomic organization and deduced amino acid sequence of a putative sodium channel gene in Drosophila. Science. 1987 Aug 14;237(4816):744–749. doi: 10.1126/science.2441469. [DOI] [PubMed] [Google Scholar]
  21. Streib E. W. AAEE minimonograph #27: differential diagnosis of myotonic syndromes. Muscle Nerve. 1987 Sep;10(7):603–615. doi: 10.1002/mus.880100704. [DOI] [PubMed] [Google Scholar]
  22. Subramony S. H., Wee A. S. Exercise and rest in hyperkalemic periodic paralysis. Neurology. 1986 Feb;36(2):173–177. doi: 10.1212/wnl.36.2.173. [DOI] [PubMed] [Google Scholar]
  23. TYLER F. H., STEPHENS F. E., GUNN F. D., PERKOFF G. T. Studies in disorders of muscle. VII. Clinical manifestations and inheritance of a type of periodic paralysis without hypopotassemia. J Clin Invest. 1951 May;30(5):492–502. doi: 10.1172/JCI102465. [DOI] [PMC free article] [PubMed] [Google Scholar]
  24. Trimmer J. S., Agnew W. S. Molecular diversity of voltage-sensitive Na channels. Annu Rev Physiol. 1989;51:401–418. doi: 10.1146/annurev.ph.51.030189.002153. [DOI] [PubMed] [Google Scholar]
  25. Trimmer J. S., Cooperman S. S., Tomiko S. A., Zhou J. Y., Crean S. M., Boyle M. B., Kallen R. G., Sheng Z. H., Barchi R. L., Sigworth F. J. Primary structure and functional expression of a mammalian skeletal muscle sodium channel. Neuron. 1989 Jul;3(1):33–49. doi: 10.1016/0896-6273(89)90113-x. [DOI] [PubMed] [Google Scholar]

Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics

RESOURCES