UVA researchers discover seizure trigger in rare form of epilepsy

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Posted at 9:18 AM, Oct 21, 2021

CHARLOTTESVILLE, Va. - It's a rare form of epilepsy known for causing uncontrollable seizures in children, but there's hope following a three-year study at the University of Virginia.

Dr. Manoj Patel is part of a research team at UVA's School of Medicine that's been working for years with children suffering from SCN8A epileptic encephalopathy, a neurological condition that causes children to suffer sometimes hundreds of seizures per day.


It also greatly increases the chance from Sudden Unexpected Death in Epilepsy.

Patel, a neuroscientist in the Anesthesiology department, says a gene mutation developed after conception causes dysfunction in a specific type of interneuron, which itself is a type of brain cell. Instead of protecting against seizures, as interneurons are supposed to do, the research team from UVA found the mutation will actually cause them.

"It's a little bit like if you're driving down the interstate and your brakes fail, your car is going to go out of control," Patel told News 3. "In the same way, these interneurons play a big role in controlling runaway excitage, but in our findings, these neurons are malfunctioning."

But the discovery is actually good news, Patel insists.

"It could lead in the future for some kind of development. That would be a dream come true for us."

That's because epilepsy doesn't have a cure and for patients battling this particular kind, traditional seizure medications don't work.

Patel says the next step in the research will be looking at other types of interneurons and the role they play in the brain.

"Once we know that, then there might be specific treatments to actually combine them together, allowing them to have a much greater influence on the runaway excitation which leads to seizures," he told News 3.

And it all starts with this big discovery at University of Virginia.