The DOI matches its Crossref record; 9 of the 9 references it cites were found in a registry or an index.
Voltage-Gated Ion Channels and Hereditary Disease
Abstract
By the introduction of technological advancement in methods of structural analysis, electronics, and recombinant DNA techniques, research in physiology has become molecular. Additionally, focus of interest has been moving away from classical physiology to become increasingly centered on mechanisms of disease. A wonderful example for this development, as evident by this review, is the field of ion channel research which would not be nearly as advanced had it not been for human diseases to clarify. It is for this reason that structure-function relationships and ion channel electrophysiology cannot be separated from the genetic and clinical description of ion channelopathies. Unique among reviews of this topic is that all known human hereditary diseases of voltage-gated ion channels are described covering various fields of medicine such as neurology (nocturnal frontal lobe epilepsy, benign neonatal convulsions, episodic ataxia, hemiplegic migraine, deafness, stationary night blindness), nephrology (X-linked recessive nephrolithiasis, Bartter), myology (hypokalemic and hyperkalemic periodic paralysis, myotonia congenita, paramyotonia, malignant hyperthermia), cardiology (LQT syndrome), and interesting parallels in mechanisms of disease emphasized. Likewise, all types of voltage-gated ion channels for cations (sodium, calcium, and potassium channels) and anions (chloride channels) are described together with all knowledge about pharmacology, structure, expression, isoforms, and encoding genes.
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Citations
Cites
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Cited by
Molecular Structure and Physiological Function of Chloride Channels
Jentsch, T. J., Stein, V., Weinreich, F., & Zdebik, A. A. (2002) · Physiological Reviews · doi:10.1152/physrev.00029.2001 · Cited by 1,256
Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2
Escayg, A., MacDonald, B. T., Meisler, M. H., Baulac, S., Huberfeld, G., An-Gourfinkel, I., Brice, A., LeGuern, E., Moulard, B., Chaigne, D., et al. (2000) · Nature Genetics · doi:10.1038/74159 · Cited by 996
The primary periodic paralyses: diagnosis, pathogenesis and treatment
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Genetics and pathogenesis of malignant hyperthermia
Jurkat-Rott, K., McCarthy, T., & Lehmann-Horn, F. (2000) · Muscle & Nerve · doi:10.1002/(sici)1097-4598(200001)23:1<4::aid-mus3>3.0.co;2-d · Cited by 293
Self-citation
Metadata
- Authors
- Lehmann-Horn, F., & Jurkat-Rott, K.
- Venue
- Physiological Reviews
- Publisher
- American Physiological Society
- Published
- 1999-01-10
- Volume
- 79
- Issue
- 4
- Pages
- 1317-1372
- ISSN
- 0031-9333 (ISSN-L)
- 1522-1210
- OpenAlex
- W2135271579
- Cited by
- 550
- References
- 9
- FWCI
- 2.27
- Type
- journal article
- Language
- en
- Open access
- closed
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