[Epilepsy: Genetic Insights and Advances in Gene Therapies]

Studies on monozygotic twins, increased risk in children of affected parents, and the identification of numerous genes responsible for epilepsy and neurodevelopmental disorders, such as autism, intellectual disability, and schizophrenia, indicate that genetics play a major role in these diseases. Recent advancements in genetic testing and gene therapies have underscored the need for clinicians, patients, and family members to share accurate knowledge about the genetics of these conditions. In this review, I further discuss the results of studies on patients, mouse models of epilepsy, and neurodevelopmental disorder-related SCN1A, SCN2A, and STXBP1 genes, which encode voltage-gated sodium channel alpha subunits Nav1.1 and Nav1.2, as well as the synaptic protein Munc18-1. These studies suggest pathological mechanisms, including a novel cortico-striatal circuit, and trials aimed at developing gene therapies.