Rare Diseases Epidemiology

  • Jurkat-rott K
  • Lerche H
  • Weber Y
  • et al.
ISSN: 00652598
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Abstract

Ion channelopathies are caused by malfunction or altered regulation of ion channel proteins due to hereditary or acquired protein changes. In neurology, main phenotypes include certain forms of epilepsy, ataxia, migraine, neuropathic pain, myotonia, and muscle weakness including myasthenia and periodic paral- yses. The total prevalence of monogenic channelopathies in neurology is about 35:100,000. Susceptibility-related mutations further increase the relevance of chan- nel genes in medicine considerably. As many disease mechanisms have been elu- cidated by functional characterization on the molecular level, the channelopathies are regarded as model disorders for pathogenesis and treatment of non-monogenic forms of epilepsy and migraine. As more than 35% of marketed drugs target ion channels, there is a high chance to identify compounds that counteract the effects of the mutations.

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Jurkat-rott, K., Lerche, H., Weber, Y., & Lehmann-horn, F. (2010). Rare Diseases Epidemiology. America, 686, 305–334. Retrieved from http://www.springerlink.com/index/10.1007/978-90-481-9485-8

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