The Genetics of Neuronal Channelopathies


A channelopathy is a new mechanism of disease involving dysfunction of ion pumps and channels. Monogenic forms of common neuronal disease phenotypes – such as seizures, ataxia and migraine – have been demonstrated to be produced by mutation of such genes. The mutation serves to produce a constitutionally hyperexcitable tissue that is susceptible to periodic decompensations recognized as disease. There are suggestions that similar mechanisms are at play in the common polygenic forms of these diseases, and that an understanding of these a etiological genes hold the potential to lead to new diagnostics and therapeutics.

Keywords: channelopathy (channel disease); ion channel; genetic disease; seizures; migraine; ataxia


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Ma, Shaochun, and Gargus, John Jay(Jul 2007) The Genetics of Neuronal Channelopathies. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1002/9780470015902.a0020225]