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Calciumopathy

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Disease category

A calciumopathy is a disease caused by disruption to the use of calcium within a cell. To a large extent, a calciumopathy is a type of channelopathy, or a disease caused by disturbed function of ion channel subunits or the proteins that regulate them; calciumopathies also include dysfunctions of regulatory pathways and mitochondria. Many calciumopathies are complex polygenic diseases; clues to their understanding are coming from the rarer monogenic forms of common symptoms such as seizures, ataxia, and migraine.

References

  1. Gargus JJ (2009). "Genetic calcium signaling abnormalities in the central nervous system: seizures, migraine, and autism". Ann N Y Acad Sci. 1151 (1): 133–56. Bibcode:2009NYASA1151..133G. doi:10.1111/j.1749-6632.2008.03572.x. PMID 19154521. S2CID 35207988.


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