Abstract
Ion channel diseases are diseases caused by dysfunction of ion channel subunits or the regular proteins. Ion channels are essential in neuronal signaling and thus channelopathies can be found in skeletal muscle or central nervous system diseases, which include hyperkalemic and hypokalemic periodic paralysis, episodic ataxia, familial hemiplegic migraine, generalized epilepsy with febrile seizures plus and so on. These diseases can be either acquired or inherited. Since 1990, many mutations in genes encoding ion channel components have been discovered to cause disorders. The findings of genetic causes contribute to explain similarities and differences in clinical and laboratory manifestations in these disorders. In this chapter, we presented two commonly encountered ion channel diseases caused by genetic mutations.
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Lin, Y. (2017). Ion Channel Disease. In: Wu, ZY. (eds) Inherited Neurological Disorders. Springer, Singapore. https://doi.org/10.1007/978-981-10-4196-9_5
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DOI: https://doi.org/10.1007/978-981-10-4196-9_5
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