Featuring work by CURE Epilepsy grantee, Dr. Edward Glasscock
SUDEP (sudden unexpected death in epilepsy) is a rare consequence of epilepsy, occurring in one in 1,000 people with epilepsy and resulting in an estimated 3,000 deaths per year in the United States. More than a decade of research has pointed to a connection between the brain, lung, and heart, but finding the underlying biological mechanism(s) has remained elusive. Dr. Edward Glasscock and Southern Methodist University (SMU) colleagues recently led a study identifying neurons in regions of the brain that govern everything from emotions to heart rate that may underlie SUDEP.
What scientists have been able to piece together comes from animal studies, particularly from a type of mouse genetically modified to lack a gene called Kcna1. That gene encodes the protein Kv1.1, which helps regulate electrical activity by controlling the flow of potassium in and out of neurons. Mice lacking Kv1.1 had seizures and problems with breathing and heart function. In the case of one mouse, researchers observed a full SUDEP event, with breathing issues followed by heart failure, which matched patterns previously seen in humans. “Catching that was really rare because we only do those recordings with respiration for somewhere between six and eight hours at a time,” Kelsey Paulhus, PhD, the study’s first author and a postdoctoral researcher at SMU, said. “I feel very fortunate that … we were able to catch that because it’s really important information.”