Episodic neurological channelopathies.
Inherited episodic neurological disorders are often due to mutations in ion channels or their interacting proteins, termed channelopathies. There are a wide variety of such disorders, from those causing paralysis, to extreme pain, to ataxia. A common theme in these is alteration of action potential properties or synaptic transmission and a resulting increased propensity of the resulting tissue to enter into or stay in an altered excitability state. Manifestations of these disorders are triggered by an array of precipitants, all of which stress the particular affected tissue in some way and aid in propelling its activity into an aberrant state. Study of these disorders has aided in the understanding of disease risk factors and elucidated the cause of clinically related sporadic disorders. The findings from study of these disorders will aid in the diagnosis and efficient targeted treatment of affected patients.
Ryan
Devon P
DP
Neuroscience Graduate Program, University of California-San Francisco, San Francisco, CA 94158, USA.
Ptácek
Louis J
LJ
D000818:Animals; D053447:Channelopathies / Q000150:complications / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007473:Ion Channels / Q000235:genetics; D018482:Muscle, Skeletal / Q000473:pathology / Q000503:physiopathology; D009422:Nervous System Diseases / Q000150:complications / Q000235:genetics* / Q000473:pathology; D009469:Neuromuscular Junction / Q000473:pathology / Q000503:physiopathology
D007473:Ion Channels