Patients who have gene variant are 10 times more likely to die without warning, study finds
A mutation in a gene called Kv1.1 appears to be associated with irregular heart beat and sudden death in people with epilepsy, a new study finds.
People with epilepsy who are otherwise healthy are 10 times more likely than normal to die suddenly and unexpectedly. It's long been suspected that the abnormal ion channels in cells that cause epilepsy also increase the risk of sudden death by affecting the heart.
Ion channels are proteins involved in nerve cell communication. In humans, the potassium ion channel Kv1.1 helps regulate electrical signals in the brain. Mutation of the gene for Kv1.1 has been associated with spontaneous seizures, abnormal muscle movement, and problems with motor coordination. This new study found that mutation of the Kv1.1 gene also affects heart function.
Mice that were bred to lack the gene for Kv1.1 channels showed signs of severe epilepsy and involuntary movement, and died prematurely due to erratic heart rhythms caused by problems in communication between the brain and the heart.
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