Medical Definition of Channelopathy

  • Medical Author:
    William C. Shiel Jr., MD, FACP, FACR

    Dr. Shiel received a Bachelor of Science degree with honors from the University of Notre Dame. There he was involved in research in radiation biology and received the Huisking Scholarship. After graduating from St. Louis University School of Medicine, he completed his Internal Medicine residency and Rheumatology fellowship at the University of California, Irvine. He is board-certified in Internal Medicine and Rheumatology.

Channelopathy: A disease involving dysfunction of an ion channel. Channelopathies are known that involve the ion channels for potassium, sodium, chloride and calcium. There are also channelopathies involving the acetylcholine receptor, the glycine receptor, and other receptors. Each channelopathy can play a role in a number of different diseases. For example, the calcium channelopathies include familial hemiplegic migraine, malignant hyperthermia (a rare but often fatal genetic condition during anesthesia), episodic ataxia type 2, spinocerebellar ataxia type 6, hypokalemic periodic paralysis type I, central core disease (a cause of the floppy baby syndrome), congenital night blindness and stationary night blindness. Abnormalities of cardiac rhythm can also be caused by channelopathies. These include Brugada syndrome, among others. See also: Ion channel.

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Reviewed on 12/21/2018

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