Background

Recent advances in genomic testing have made it possible to achieve precise genetic diagnosis in many difficult-to-treat epilepsies. Understanding the genetic cause of epilepsy enables doctors to tailor treatment to the specific biology of the condition, a practice known as precision medicine.

Research

Researchers at FutureNeuro and Children’s Health Ireland identified people with epilepsy caused by genetic mutations in the DEPDC5 and NPRL3 genes,  which act in a cellular pathway known as the mTOR pathway. Five of these patients experienced frequent seizures, mostly during sleep. The study explored the effects of everolimus, a repurposed drug that targets the mTOR pathway, on seizure frequency. Three patients showed significant seizure reduction, though common side effects included mouth ulcers and elevated cholesterol.

Potential Impact

Our study provides the first evidence that repurposing everolimus may benefit patients with epilepsy caused by DEPDC5 gene mutations. Larger studies are needed to confirm these results. As genomic testing becomes more accessible, precision medicine may offer better outcomes for patients with difficult-to-treat epilepsy.