Most persons with epilepsy will have a normal lifespan, but each year many young patients die suddenly, apparently without cause. In the last year, the first two genes (Kcnq1 and Kcna1) responsible for Sudden Unexplained Death in Epilepsy (SUDEP) have been identified.
The work, which was led by Dr. Jeff Noebels, Dr. Alica Goldman, Dr. Ed Glasscock and colleagues in the Blue Bird Circle Developmental Genetics Laboratory in the Department of Neurology at Baylor College of Medicine was published in Science Translational Medicine and Journal of Neuroscience.
The laboratory team demonstrated that a mutation in a single gene encoding ion channel protein present in the brain and heart leads to neural hyperexcitability and epileptic seizures and can also cause cardiac arrhythmias and sudden unexpected death. With this seminal finding, clinicians now have a simple and essential test to identify risk for sudden death in persons with seizures of unknown origin.
A routine cardiology evaluation consisting of an ECG, and if indicated, a genetic screening test for this family of genes can positively identify this risk factor. Most importantly, there are effective treatments for the heart irregularity, including drugs (beta blockers), as well as the use of a cardiac pacemaker to prevent lethal arrhythmias and SUDEP.