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. The team will focus on understanding whether the mutations affect how nutrients move between neuronal and supportive brain cells, leading to defective energy production, and causing seizures. The team will use advanced laboratory techniques to study these changes, potentially leading to targeted treatments for SLC13A5 epilepsy.In partnership with TESS Research Foundation.
