IW | Hidden Epilepsy Genetics: Mosaicism, Repeat Expansions, Epigenetic Modifiers

Despite widespread use of exome and genome sequencing, many epilepsies remain genetically unexplained. Emerging evidence implicates hidden mechanisms—somatic mosaicism, short tandem repeat expansions, epigenetic dysregulation, and microRNA-mediated gene regulation—that evade conventional testing yet critically shape epileptogenesis, phenotypic heterogeneity, and treatment resistance. This investigator-focused workshop integrates these mechanisms with emphasis on translational relevance to clinical phenotyping, surgical decision-making, biomarker discovery, and therapeutic development. Four thematic sessions address mosaicism, repeat expansions, epigenetic regulation, and microRNAs, followed by an interactive panel highlighting multi-omic study design and implementation to advance precision medicine in epilepsy.