Epilepsy in tuberous sclerosis complex: Findings from the TOSCA Study.

Area of Science:

• Neurology
• Genetics
• Pediatrics

Background:

• Tuberous Sclerosis Complex (TSC) is a genetic disorder with a high prevalence of epilepsy.
• Understanding the characteristics of epilepsy in TSC is crucial for improving patient outcomes.

Purpose of the Study:

• To present baseline data from the international Tuberous Sclerosis Complex registry (TOSCA).
• To characterize epilepsies associated with TSC, focusing on seizure types, onset, and treatment.

Main Methods:

• Collected retrospective and prospective data from a global cohort of TSC patients.
• Analyzed epilepsy variables including seizure type, age at onset, treatment, and outcomes.
• Examined associations between epilepsy, genotype, and intellectual disability.

Main Results:

• Epilepsy affects 83.6% of TSC patients, with infantile spasms (38.9%) and focal seizures (67.5%) being most common.
• Infantile spasms typically begin before age 2, with higher rates in TSC2 mutations.
• Seizure control was achieved in 76.3% of infantile spasms and 58.2% of focal seizures, associated with lower intellectual disability rates.

Conclusions:

• The TOSCA registry provides the largest international cohort data for TSC.
• Confirms early onset of infantile spasms and focal seizures in TSC, with a higher incidence in TSC2 mutations.
• Seizure control is associated with reduced intellectual disability but does not eliminate it.