More than half a million people live with treatment-refractory forms of the epilepsies, meaning they experience persistent seizures despite trying multiple medications and surgery. For many, such seizures occur every day—several times a day—and go hand in hand with other conditions such as depression, autism spectrum disorder and intellectual disability.
|Above, NINDS director Dr. Story Landis (l) and NIH director Francis Collins (second from l) gave kudos to conference co-chairs Dr. Anne Berg of the Ann & Robert H. Lurie Children’s Hospital of Chicago and Dr. Kevin Staley of Massachusetts General Hospital. At right, Dr. David Goldstein of Duke University discusses the Epi4K initiative.
With the goal of developing more effective treatments, several hundred people met at NIH recently for “Curing the Epilepsies 2013: Pathways Forward,” the third in a series since the White House initiated the first meeting in 2000. Widely considered to be a turning point for epilepsy research, the initial meeting spurred a shift from focusing on seizure control to preventing and curing the disorders. At each of the meetings, scientists, physicians and patient advocates play a key role by setting priorities for research in the form of benchmarks.
“The biggest question facing the epilepsy community today is finding out what causes seizures to begin, a process referred to as epileptogenesis,” said Dr. Story Landis, director of the National Institute of Neurological Disorders and Stroke, which sponsored the meeting in collaboration with several medical societies and patient advocacy groups. Understanding how seizures start and what causes them to recur will lead to new treatments that can prevent the epilepsies or significantly modify the course of the disease for those with seizures.
Roughly half of all cases of epilepsy can be linked to infection, head trauma, neonatal brain injury, stroke, gene mutation, brain tumor or other identifiable problems. For the remaining cases, an underlying cause is unknown, although these forms of the disorders are widely presumed to involve additional genetic mutations. But even when there is an identifiable cause, it is not clear why neurons begin to fire abnormally in patterns that lead to seizures.
In addition to new insights about epileptogenesis, experts at the meeting presented research on the conditions that often accompany the epilepsies, such as autism spectrum disorder and sleep disorders. Others discussed how combinations of advanced imaging technologies are helping to refine surgical techniques and improve success rates.
Recent progress in understanding the genetic basis of the epilepsies has been driven by Epi4K, an NINDS-funded initiative using next-generation sequencing to analyze the genomes of at least 4,000 people with the epilepsies.
The final day of the meeting was devoted to discussion about how to revise the Benchmarks for Research on the Epilepsies that identify priorities for advancing research over the next 5 to 10 years.