The general aim of this thesis is to study the determinants of the variability in phenotype in patients with Tuberous Sclerosis Complex (TSC), and to investigate the optimal treatment for epilepsy in children with TSC.

The specific aims of the studies in this thesis are:
1. To obtain more knowledge about the relationships between
– genetic mutations in TSC1 and TSC2 and TSC-related brain pathology,
– TSC-related brain pathology and autistic traits,
– and clinical factors related to TSC and IQ.
2. To investigate the efficacy of treatments that are currently used for epilepsy related to TSC.
3. To assess the effect of sirolimus on TSC related intractable epilepsy in children.
4. To give an overview of clinical trials investigating intellectual disability in genetic disorders, and identify reasons why many drugs that seem promising in animal research do not become registered treatments for the investigated condition.

Additional Metadata
Promotor Y. Elgersma (Ype) , H.A. Moll (Henriëtte) , M.C.Y. de Wit (Marie Claire)
Publisher Erasmus University Rotterdam
Sponsor Financial support for the printing of this thesis was provided by Stichting Tubereuze Sclerosis Nederland (STSN).
ISBN 978-94-92683-06-9
Persistent URL
Overwater, I.E. (2017, May 16). Tuberous Sclerosis in children : clinical characteristics and targeted treatment. Erasmus University Rotterdam. Retrieved from