Epilepsy is a group of neurological disorders of various severities characterized by recurrent seizures. It affects 60 million people worldwide and takes a profound physical, emotional, social and economic toll on individuals and societies. The mortality rate has been significantly underappreciated, and there is a 3 to 6 times greater risk of premature death in people with epilepsy.

For the 30-40 percent whose seizures are uncontrolled — defined as seizures that persist despite trials of two therapies — the impact is often catastrophic and the risk of death, including Sudden Unexpected Death in Epilepsy (SUDEP), increases dramatically.

A new perspective

Strong patient advocacy efforts and the commitment of researchers and clinicians have led to the discovery of more than 300 genetic forms of epilepsy and its related syndromes. Even previously presumed non-genetic epilepsies are being linked to genes, and experts believe it is only a matter of time before we find genetic reasons for why some people develop epilepsy after brain trauma (e.g., injury, infections, etc.), while others don’t.

With the identification of key genes in epilepsy, we can diagnose with precision. This will allow for targeted treatment, then predicting prognosis and then hopefully prevention of the disease overall. To date, more than a dozen precision therapies are used in a small number of patients with genetic epilepsy, some with substantial success.

“With the identification of key genes in epilepsy, we can diagnose with precision.”

In this new era of genomic medicine, researchers around the globe, with patients by their side, are using their shoestring budgets to systematically uncover not only precision therapies, but also data on therapies that can harm.

More precision is needed

For those of us in this Global Epilepsy Precision Medicine Movement, we want to see the medical practice of epilepsy move away from trial-and-error therapeutics, focusing on personalized medicine for each individual instead. This is precision medicine, and it is alive and ever-increasing in epilepsy.

Sadly, few hear about epilepsy precision medicine. Many in the community itself don’t realize epilepsy’s historical legacy in this space. Despite the existence of targeted precision therapies, public misconceptions and a lack of funding leave many with epilepsy to suffer. Even though epilepsy is 10 times more common than diseases like Parkinson’s, it receives up to 6 times less funding. For the 1 in 26 who will develop epilepsy in their lifetime, precision medicine could mean the difference between getting the right first line therapy or trying treatment after treatment, as so many currently do. It’s going to take all of us together to get people with epilepsy the precision therapies they need.