Warning: Undefined variable $zfal in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 525
Deprecated: str_replace(): Passing null to parameter #3 ($subject) of type array|string is deprecated in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 525
Warning: Undefined variable $sterm in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 530
 free
Warning: Undefined variable $sterm in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 531
 free
 free
 
English Wikipedia
Nephropedia Template TP (
Twit Text
DeepDyve
Pubget Overpricing |  
lüll
Channelopathies: ion channel defects linked to heritable clinical disorders Felix RJ Med Genet 2000[Oct]; 37 (10): 729-40Electrical signals are critical for the function of neurones, muscle cells, and cardiac myocytes. Proteins that regulate electrical signalling in these cells, including voltage gated ion channels, are logical sites where abnormality might lead to disease. Genetic and biophysical approaches are being used to show that several disorders result from mutations in voltage gated ion channels. Understanding gained from early studies on the pathogenesis of a group of muscle diseases that are similar in their episodic nature (periodic paralysis) showed that these disorders result from mutations in a gene encoding a voltage gated Na(+) channel. Their characterisation as channelopathies has served as a paradigm for other episodic disorders. For example, migraine headache and some forms of epilepsy have been shown to result from mutations in voltage gated Ca(2+) channel genes, while long QT syndrome is known to result from mutations in either K(+) or Na(+) channel genes. This article reviews progress made in the complementary fields of molecular genetics and cellular electrophysiology which has led to a better understanding of voltage gated ion channelopathies in humans and mice.|Animals[MESH]|Calcium Channels/chemistry/genetics/physiology[MESH]|Disease Models, Animal[MESH]|Electrophysiology[MESH]|Genetic Diseases, Inborn/*genetics/*physiopathology[MESH]|Heart Diseases/genetics/physiopathology[MESH]|Humans[MESH]|Ion Channels/chemistry/*genetics/*physiology[MESH]|Mice[MESH]|Mutation/genetics[MESH]|Nervous System Diseases/genetics/physiopathology[MESH]|Potassium Channels/chemistry/genetics/physiology[MESH]|Sodium Channels/chemistry/genetics/physiology[MESH] |
