Cutting-Edge Techniques for Studying Brain Mosaicism in Focal Epilepsy

Brain-restricted somatic variants can cause cortical malformations, developmental tumors and other focal epilepsies while escaping routine germline tests. This investigators workshop examines sensitive methods for detecting variants present in only a small fraction of cells. Sessions cover minimally invasive sampling, genomic assays, single-nucleus RNA sequencing and spatial analysis of brain tissue, then connect these approaches to genotype–phenotype relationships and mechanistic studies in human cells and mosaic mouse models. The aim is to improve diagnosis and identify more targeted therapeutic strategies.

Saturday 5 December, 14:30–16:00 Mountain Standard Time (America/Denver). Part of the 2026 American Epilepsy Society Annual Meeting. In-person meeting registration and a free myAES account are required. Standard full-meeting rates are USD 800 for member scientists and USD 1,075 for non-member scientists; student rates are USD 250 and USD 360, respectively. Other professional and one-day categories are available. Seating priority goes to registered attendees.