Table of Contents:
27 patients with tuberous sclerosis complex (TSC) were analysed with the internet-based database EpiSurgeDat, which was exclusively developed for this retrospective cohort study. The purpose of the study was to present well-phenotyped TSC patients who furthermore suffered from epilepsy. Three TSC centers (Marburg, Kehl-Kork, Freiburg) participated in the study.
The collected data contains general information about the patients, for instance about their demography, socio-economics or neuropsychology. However, the points of interest are specific information about the presentation of TSC and the explicitly described characterisation of the seizure disorders.
All included patients suffered from epilepsy. In 90% of the EEGs interictal discharges were recognised, and in 50% of the recorded seizures had an unifocale onset zone.
Nine patients underwent a genetic testing of a mutation of TSC1 or TSC2 genes. In three patients (33%) none of theses mutations were detected.
A neurosurgery was done in 11 patients, afterwards four (37%) of them were seizure free.
Two patients were treated with Everolimus, one of them witnessed a reduction of his seizure frequency of 50%, the other one had neither a reduction nor an increase of his seizure frequency.
The database was established to improve the cooperation of TSC centers. Additionally, it contributed to the research of the rare genetic disease TSC, and it should improve treatment of future patients. This dissertation serves as a starting point for further work in this field.