Washington, Oct 15 (ANI): Researchers from Baylor College of Medicine have identified a 'molecular trigger' that could explain sudden death in epilepsy patients.
According to Dr. Jeffrey Noebels, the study's senior author and director of the Blue Bird Circle Developmental Neurogenetics Laboratory at Baylor College of Medicine, they have identified a particular potassium channel KvLQT in neurons of the central nervous system.
It would give scientists a clue about which epilepsy patients face the greatest risk of dying unexpectedly.
The channel has been identified in heart muscle cells and now for the first time in brain or nerve cells.
"Idiopathic (unexplained) epilepsy is one of neurology's oldest mysteries. While most persons with epilepsy will have a normal lifespan, our finding now points the way to a simple and essential test to identify risk for sudden death in persons with seizures of unknown origin," said Noebels.
"In these patients, a routine cardiology evaluation consisting of an EKG, and if indicated, a genetic screening test for this family of genes can positively identify this new risk factor.
"If the gene test is positive, there are effective treatments for the heart irregularity, including drugs known as beta blockers, as well as the use of a cardiac pacemaker to prevent lethal arrhythmias," Noebels added.
"Living with epilepsy is difficult enough, but unexpectedly dying from it, as happens in young adults with the disorder, is one of the greatest fears a family must face," said Dr. Alica Goldman, assistant professor in the BCM department of neurology. Noebels is a professor in the departments of neurology, neuroscience and molecular and human genetics at BCM.
During her study, Goldman examined five ion channel genes linked to long QT syndrome, a disorder associated with heart rhythm disorders and sudden death.
She found that mice with a mutation in the gene that encodes for the KvLQT1 ion channel had frequent epileptic seizes as well as life-threatening heart rhythm irregularities.
The study appears in the journal Science Translational Medicine. (ANI)