Channelopathies

Ion channels are involved in every thought, every perception, every movement, every heartbeat - Clay Armstrong

Channelopathies

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Importance of Ion Channels in the Body

Channelopathies include diseases of the nervous system, the cardiovascular system (e.g., long QT syndrome, short QT syndrome), the respiratory system (e.g., cystic fibrosis), the endocrine system (e.g., neonatal diabetes mellitus, the urinary system (e.g. nephrogenic diabetes insipidus, autosomal-dominant polycystic kidney disease), and the immune system (e.g., myasthenia gravis).

Classifying channelopathies is difficult as a large amount of heterogeneity and phenotypic variations are observed among the various diseases. With the recent advances in deciphering the role of ion channels in the human body, the list of channelopathies is expanding. The treatment approach for the majority…

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 Importance of Ion Channels in the Body

Ion channels are transmembrane proteins specifically involved with the transport of inorganic ions like Na+, K+, Ca2+, or Cl-. Ion channels are “gated”, i.e. they open in response to a specific stimulus, such as a change in membrane potential (voltage-gated ion channels) or the binding of a neurotransmitter (ligand-gated ion channels).

Beyond the Ion Channel

In our blog “Beyond the Ion Channel”, we try to make our research more understandable, digestable and interpretable. We would like to share and discuss recent findings in epilepsy genetics on this blog, which is usually updated three times a week.

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