2002
DOI: 10.1007/s00415-002-0871-5
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Skeletal muscle channelopathies

Abstract: Ion channelopathies have common clinical features, recurrent patterns of mutations, and almost predictable mechanisms of pathogenesis. In skeletal muscle, disorders are associated with mutations in voltage-gated Na(+), K(+), Ca(2+), and Cl(-) channels leading to hypoexcitability, causing periodic paralysis and to hyperexcitabilty, resulting in myotonia or susceptibility to malignant hyperthermia.

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Cited by 111 publications
(80 citation statements)
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“…It will also be intriguing to see whether any of these other genes show comparable alterations in expression or sequence especially in those species with extremely rapid EOD pulses. Na ϩ channel genes are highly constrained, as evidenced by the large number of amino acid replacements that change the properties of the Na ϩ current and lead to neurological, cardiac, and muscular diseases (15)(16)(17)(18)(19)(20). A critical step in the evolution of electric organs is the disabling of excitation-contraction so that the organ does not twitch when it discharges.…”
Section: Discussionmentioning
confidence: 99%
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“…It will also be intriguing to see whether any of these other genes show comparable alterations in expression or sequence especially in those species with extremely rapid EOD pulses. Na ϩ channel genes are highly constrained, as evidenced by the large number of amino acid replacements that change the properties of the Na ϩ current and lead to neurological, cardiac, and muscular diseases (15)(16)(17)(18)(19)(20). A critical step in the evolution of electric organs is the disabling of excitation-contraction so that the organ does not twitch when it discharges.…”
Section: Discussionmentioning
confidence: 99%
“…We focused on Na ϩ channel genes because the EOD in at least one species of gymnotiform is shaped by the properties of the EO Na ϩ current (10) and because of the wealth of information on channel structure͞function from site-directed mutagenesis and point mutations underlying clinical syndromes (15)(16)(17)(18)(19)(20).…”
mentioning
confidence: 99%
“…A surprising number of channelopathies associated with a wide diversity of human disease are caused by similar mutation-induced changes in ion channel function. Inactivation of voltage-dependent Na ϩ channels is an example of a physiological process critically important in many tissues that, when altered by mutation, can result in muscle weakness, inherited epilepsies, autism, or cardiac arrhythmia (2)(3)(4). Clinical consequences of inherited mutations that disrupt Na ϩ channel inactivation provide the most direct link between ion channel biophysics and human physiology and pathophysiology.…”
mentioning
confidence: 99%
“…A person may go his whole life unaware that he has such a mutation until he is given a halogenated anesthetic in the operating room, which could rapidly trigger a lifethreatening response known as malignant hyperthermia. 23,24,25 "We are convinced that this is an amazing demonstration of a gene-by-environment interaction in which the gene by itself is insufficient to cause an overt clinical phenotype, so you don't know that individuals are susceptible until they're subjected to an environmental stressor," Pessah says. He and other researchers are investigating the idea that ASDs and other developmental disorders similarly could begin with a small genetic variation that makes a person more susceptible to ryanodine receptor disruption.…”
Section: What Does This Mean For Humans?mentioning
confidence: 99%