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Comment
. 2017 Dec 4;149(12):1061-1064.
doi: 10.1085/jgp.201711923. Epub 2017 Nov 14.

An atypical CaV1.1 mutation reveals a common mechanism for hypokalemic periodic paralysis

Stephen C Cannon  1
Affiliations
Comment

An atypical CaV1.1 mutation reveals a common mechanism for hypokalemic periodic paralysis

Stephen C Cannon. J Gen Physiol. .

Abstract

Cannon reviews new evidence supporting a key role for anomalous inward currents in the etiology of hypokalemic periodic paralysis.

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Figures

Figure 1.
Figure 1.
Mutations of NaV1.4 and CaV1.1 associated with hypokalemic periodic paralysis occur predominantly at arginine residues in S4 transmembrane segments of the voltage sensor domains. The V876E mutation in S3 of domain III in CaV1.1 is the only exception (blue highlight).
See this image and copyright information in PMC

Comment on

References

    1. Campos F.V., Chanda B., Roux B., and Bezanilla F.. 2007. Two atomic constraints unambiguously position the S4 segment relative to S1 and S2 segments in the closed state of Shaker K channel. Proc. Natl. Acad. Sci. USA. 104:7904–7909. 10.1073/pnas.0702638104 - DOI - PMC - PubMed
    1. DiFranco M., Tran P., Quiñonez M., and Vergara J.L.. 2011. Functional expression of transgenic α1sDHPR channels in adult mammalian skeletal muscle fibres. J. Physiol. 589:1421–1442. 10.1113/jphysiol.2010.202804 - DOI - PMC - PubMed
    1. Fontaine B., Vale-Santos J., Jurkat-Rott K., Reboul J., Plassart E., Rime C.S., Elbaz A., Heine R., Guimarães J., Weissenbach J., et al. . 1994. Mapping of the hypokalaemic periodic paralysis (HypoPP) locus to chromosome 1q31-32 in three European families. Nat. Genet. 6:267–272. 10.1038/ng0394-267 - DOI - PubMed
    1. Fuster C., Perrot J., Berthier C., Jacquemond V., and Allard B.. 2017a Elevated resting H(+) current in the R1239H type 1 hypokalaemic periodic paralysis mutated Ca(2+) channel. J. Physiol. 595:6417–6428. 10.1113/JP274638 - DOI - PMC - PubMed
    1. Fuster C., Perrot J., Berthier C., Jacquemond V., Charnet P., and Allard B.. 2017b Na leak with gating pore properties in hypokalemic periodic paralysis V876E mutant muscle Ca channel. J. Gen. Physiol. 149 10.1085/jgp.201711834 - DOI - PMC - PubMed

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