Naomi Dirckx, PhD
Genetic changes in the solute carrier family 13 member 5 (SLC13A5) gene, a protein that transports citrate (a key nutrient) into cells, can cause epilepsy starting at a young age. Children with these genetic changes develop seizures within a day of being born and have neurodevelopmental delays. Dr. Dirckx will study how mutations in SLC13A5 affect how the brain processes energy and nutrients.