Epilepsy diagnostics transformed

One researcher’s quest for answers changes lives.

Everything we know about epilepsy—how it’s diagnosed, how it’s treated, even how it’s described—is being upended for many patients. Genetic diagnoses that took years to render now take weeks—and in some cases, only days. “Idiopathic epilepsy,” the term used for epilepsy of unknown origin, is diagnosed less frequently as precise causes are identified. What’s changing? Our understanding of the condition’s genetic bases.

By pinpointing the cause of a person’s epilepsy, Annapurna Poduri, MD, MPH, believes we can pinpoint the treatment. That’s important because treatment still involves guesswork, with many patients requiring trials of different medications to see which works best and others needing brain surgery. That’s not good enough, Dr. Poduri insists. “I look to a future when the standard of care is no longer trial and error. If we don’t do everything we can to determine the genetic causes of epilepsy, the status quo won’t change.”

In the Epilepsy Genetics Program, Dr. Poduri and her colleagues use genetics to identify the cause of a child’s disorder, reducing the time to diagnosis and treatment, saving years of frustration and, sometimes, physical deterioration. The team has even halted seizures altogether for some patients.

Unfortunately, heterogeneity is the rule in epilepsy; hundreds of causes may require hundreds of treatments, and most children still don’t have an answer. But Dr. Poduri is undaunted. “We just haven’t found it yet.”