By F. Lehmann-Horn, K. Jurkat-Rott

This e-book describes human hereditary ion channel ailments of voltage- and ligand-gated ion channels overlaying the various fields of medication myology, neurology, cardiology, and nephrology requiring a large and interdisciplinary readership. attention-grabbing parallels in pathogenetic mechanisms of illness are particularly emphasised to curiosity even hugely really expert readers in entities outdoor in their fields. every one writer has written an aim review of his or her specific topic in a manner that are supposed to let the reader inside a brief time period to procure a accomplished photograph of the current kingdom of artwork.

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1996. Role in fast inactivation of conserved amino acids in the IV/S4-S5 loop of the human muscle Na + channel. Neurosci. Lett. 214, 9±12. , 1998. Independent versus coupled inactivation in sodium channels. Role of the domain 2 S4 segment. J. Gen. Physiol. 111, 451±462. , 1999. Mutant channels contribute less than 50% to Na + current in paramyotonia congenita muscle. Brain 122, 1085±1092. , 1998. Gating of the L-type Ca channel in human skeletal myotubes: an activation defect caused by the hypokalemic periodic paralysis mutation R528H.

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A. ). The Rockefeller University Press, New York, pp 77±88. , 1992. A cluster of hydrophobic amino acid residues required for fast Na + channel inactivation. Proc. Natl. Acad. Sci. A. 89, 10910±10914. , 1994. Sodium channel mutations in paramyotonia congenita exhibit similar biophysical phenotypes in vitro. Proc. Natl. Acad. Sci. A. 91, 12785±12789. , 1995. Evidence for voltage-dependent S4 movement in sodium channels. Neuron 15, 213±218. , 1996. Molecular basis of charge movements in voltage-gated sodium channels.

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