[Channels: a new way to revisit pathology].
Many "essential" diseases that manifest themselves in the form of crises or fits (epilepsies, episodic ataxia, periodic paralyses, myotonia, heart rhythm disorders, etc.) are due to ionic channel dysfunction and are thus referred to as "channelopathies". Some of these disorders are congenital, due to mutations of genes encoding channel subunits, while others result from toxic, immune or hormonal disturbances affecting channelfunction. Channelopathies take on a wide variety of clinical forms, depending on the type of channel (sodium, potassium, calcium, chloride...) and the type of dysfunction (loss or gain of function). Some apparently unrelated diseases affecting distinct organs are due to a similar dysfunction of the same channel, revealing unsuspected relationships between organs and between medical specialties. In addition, a given syndrome can be caused by distinct channel dysfunctions. This provides new opportunities for diferential diagnosis and specific correction of the causal defects, although some treatments find applications across multiple medical specialties.
Emmanuel
E
Fournier
D000109:Acetylcholine / Q000378:metabolism; D000818:Animals; D015220:Calcium Channels / Q000235:genetics / Q000378:metabolism; D053447:Channelopathies / Q000145:classification / Q000175:diagnosis / Q000235:genetics; D018118:Chloride Channels / Q000235:genetics / Q000378:metabolism; D006801:Humans; D015640:Ion Channel Gating / Q000235:genetics; D007473:Ion Channels / Q000145:classification / Q000235:genetics; D015221:Potassium Channels / Q000235:genetics / Q000378:metabolism; D011950:Receptors, Cholinergic / Q000235:genetics / Q000378:metabolism; D015222:Sodium Channels / Q000235:genetics / Q000378:metabolism
D015220:Calcium Channels; D018118:Chloride Channels; D007473:Ion Channels; D015221:Potassium Channels; D011950:Receptors, Cholinergic; D015222:Sodium Channels; D000109:Acetylcholine