Epilepsy Surgery in Tuberous Sclerosis Complex (TSC)

TSC (tuberous sclerosis complex) is a rare disorder, affecting 1/6000, and is caused by a dominant mutation in either of two genes (TSC1 or TSC2). The mutation leads to a decreased inhibition of the intracellular protein mTOR, causing hamartomas in several organs, including the brain.

Epilepsy is prevalent in 90% of individuals affected by TSC, with 67% having focal seizures. Only 30 % achieve seizure control during at least 24 months on antiseizure medications alone. Epilepsy resistant to medications can in some cases be cured by epilepsy surgery.

In general, several potentially epileptogenic lesions are present in the affect individual, making epilepsy surgery a particular challenge. Even if the primary epileptogenic tuber is removed, new tubers may develop epileptogenic potential making long-term follow-up of particular importance.

TSC is associated with several cognitive, emotional and neuropsychological disorders with approximately 50% affected by intellectual disability. TAND (TSC-Associated Neuropsychiatric Disorders) is a new tool to monitor the cognitive effects of TSC, including aggressive behaviour, intellectual disability, autism, psychiatric disorders and school problems.

There are few studies evaluating a national population based material of epilepsy surgery procedures in TSC. The project will mainly be based in the Swedish National Epilepsy Surgery Register (SNESUR), containing epilepsy related as wells as psychosocial data for all epilepsy surgery procedures since 1990 with prospective data collection since 1995. The patients are followed every fifth year. Further information will be gathered through medical records, self-assessments scales, and through re-evaluation of radiological and neurophysiological pre-and post-operative data. Information regarding TAND will be collected and compared to matched individuals who have not had epilepsy surgery.

The main aim of the project is to create a basis for selection of patients with TSC eligible for epilepsy surgery, to increase seizure control and quality of life.