Instituut voor Neuropathische Pijn
English articles Research & Development Channelopathies: increasing understanding
| Channelopathies: increasing understanding |
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Inherited mutaions of ion channels can affect central and peripheral nervous system. Most of these chanches in the fundtion of ionchannels influence the function of brain, spinal cord, peripheral nerves or muscles. The disturbances are not continous, but intermittent.
Subtle derangements of ion channel function based on mutations are perhaps more common that many of us think and can be found in epilepsy and migraine. that share features with rare monogenic channelopathies. [1] Various neuropathic discorders, such as scapuloperoneal spinal muscular atrophy and Charcot-Marie-Tooth disease type 2C are so called allelic disorders caused by mutations in the vanilloid transient receptor potential cation-channel gene TRPV4. [2] Thus these disorders too belong to the channelopathies. Recent findings support the fact that certain neuropathies are the result of aquired autoimmune channelopathies and critical illness myopathy is also seen as an aquired channelopathy[3].[4] March 2010, Jan M. Keppel Hesselink, MD, PhD Referenties[2]: Nilius B, Owsianik G. | Channelopathies converge on TRPV4. | Nat Genet. | 2010 Feb;42(2):98-100. [4]: Buckley C, Vincent A. | Autoimmune channelopathies. | Nat Clin Pract Neurol. | 2005 Nov;1(1):22-33. |