IW | Cutting-Edge Techniques for Studying Brain Mosaicism in Focal Epilepsy

Brain-restricted somatic mosaicism plays a key role in the pathogenesis of malformations of cortical development, developmental tumors, and other lesional focal epilepsies, including hippocampal sclerosis. Due to absence of epilepsy-associated somatic genetic variants outside the brain, they are frequently missed on standard germline testing, necessitating access to brain tissue from epilepsy surgery or biopsy. Since only a small fraction of brain cells may harbor the pathogenic variant, highly sensitive approaches are required for detection. This session explores cutting-edge techniques to overcome these diagnostic challenges and characterize the underlying pathophysiological mechanisms to better target therapies.