Modelling etiopathogenesis of the Foxg1-linked variant of West syndrome

West Syndrome is a genetic disease that occurs in 1 every 3,500 infants. It is characterized by early-onset spasms, abnormalities of electrical brain activity and impaired psychomotor development. Spasms and electrical abnormalities often disappear before 3 years of age, but the, the majority of patients will develop other types of epileptic syndromes. In a small percentage of cases, West Syndrome is associated to duplications of the FOXG1 gene. Using a genetic mouse model as well artificial nerve tissue originating from reprogramming of patients blood cells, our project aims at investigating the mechanisms that are responsible for the onset of epileptic seizures in this form of the disease.