Sandbox WWC3: Difference between revisions
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==Medical Implications== | ==Medical Implications== | ||
Diseases caused by mutations in sodium channels can come in many forms. Some mutations affect skeletal, cardiac or smooth muscle, while others affect neural function. Common diseases include | Diseases caused by mutations in sodium channels can come in many forms. Some mutations affect skeletal, cardiac or smooth muscle, while others affect neural function. Common diseases include Long QT Syndrome, Hyperkalemic Periodic Paralysis, Hypokalemic Periodic Paralysis, Myotonia Fluctuans and Myotonia Permanens among many others <ref name ="dis">http://neuromuscular.wustl.edu/mother/chan.html#SCN4A</ref>. | ||
===Long QT Syndrome=== | |||
This disease causes seizures, fainting or sudden death from cardiac arrhythmias and is caused my a mutation in the SCN5A gene, or the gene that encodes the NaV1.5 alpha subunit <ref name ="QT">DOI: 10.1016/0092-8674(95)90359-3</ref><ref name ="Long">http://www.mayoclinic.org/diseases-conditions/long-qt-syndrome/basics/definition/con-20025388</ref> . | |||
==References== | ==References== | ||
<references/> | <references/> | ||
