Topic: somatic mosaicism

Many epilepsies remain unexplained after exome or genome sequencing. This workshop investigates mechanisms that conventional testing may miss: somatic mosaicism, repeat expansions, epigenetic changes and microRNA regulation. It relates biological and technical detection limits to neuronal excitability, clinical heterogeneity and treatment resistance. Thematic presentations and an interactive panel address multi-omics study design, clinical phenotyping, biomarkers and therapeutic development, connecting molecular mechanisms to precision medicine and surgical decisions. Sunday 6 December, 08:30

The human fetal brain shows extensive somatic mosaicism with each embryonic neuronal progenitor cell (NPC) accumulating five mutations daily, whereas postnatal mature neurons accumulate 23 mutations yearly. Somatic mosaicism can contribute to neurodevelopmental disorders like schizophrenia and play a role in interindividual phenotypic differences. Rapid NPC proliferation may cause the high mutation rate, and somatic mutations can alter NPC survival, proliferation, or differentiation, causing clonal selection. Little is known about the mechanisms driving clonal evolution in neurotypical brains