Human pathology

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channelopathies

ion channel disorders, ion channel diseases

According to channel types

- K(+) channels
- Na(+) channels
- Ca(2+) channels

According to the localization

- cardial channelopathies
- endocrine channelopathies
- muscular channelopathies
- renal channelopathies

Books

- Ion Channels and Disease: Channelopathies. by Frances M. Ashcroft. Hardcover: 481 pages ; Dimensions (in inches): 1.07 x 10.30 x 7.15. Publisher: Academic Press; 1st edition (January 15, 2000) ISBN: 0120653109

References

- Foggia L, Hovnanian A. Calcium pump disorders of the skin. Am J Med Genet. 2004 Nov 15;131C(1):20-31. PMID: 15468148

- Hubner CA, Jentsch TJ. Ion channel diseases. Hum Mol Genet. 2002 Oct 1;11(20):2435-45. PMID: 12351579

- Bulman DE. Phenotype variation and newcomers in ion channel disorders. Hum Mol Genet. 1997;6(10):1679-85. PMID: 9300659

- Doyle JL, Stubbs L. Ataxia, arrhythmia and ion-channel gene defects. Trends Genet. 1998 Mar;14(3):92-8. PMID: 9540405