Cellular Profiling, Functional Connectivity, and the Effect of Antiseizure Medications in Brain Organoids Derived from Patients with DEE13
University of California, Los Angeles
2024
Colin McCrimmon, MD, PhD
Developmental and Epileptic Encephalopathy-13 (DEE13) is a severe epilepsy that causes seizures and learning problems because of variants in the gene SCN8A (sodium channel protein type 8 subunit alpha) which makes a sodium channel protein called Nav1.6 and is important for electrical signaling in the brain. Dr. McCrimmon’s team will use 3D disease-in-a-dish models (called brain organoids) made from the cells of DEE13 patients to study how this faulty gene affects two key brain areas. They will also test if currently available treatments can treat these problems. This research will help us understand DEE13 better and develop new treatments for it and similar conditions.
