Tuberous Sclerosis Complex and Epilepsy in Infancy: Prevention and Early Diagnosis

Numerous studies showed that epilepsy represents a high burden in Tuberous Sclerosis Complex (TSC), affecting 63 to 78% of the patients. Epilepsy will be refractory to medication in over 60% of cases in early presentations, and accompanied by intellectual disabilities and/or autism spectrum disorders. The emerging experimental and clinical data suggest that the molecular and cellular changes triggered by seizures, particularly during the first weeks of life, can be limited by early action. Making any effort to avoid or delay epilepsy onset is a promising pathway to improve global outcome for TSC patients, although it is not possible to tidy up the specific roles of seizures, interictal abnormalities, and cortical abnormalities upon neurodevelopment.