ICNC Abstracts, ICNC 2018

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Tuberous Sclerosis Complex (TSC) - Associated Epilepsy: Final Results from the TOSCA Study
Rima Nabbout, Elena Belousova, Mirjana P Benedik, Tom Carter, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Lisa D´Amato, Guillaume B d'Augères, Petrus J De Vries, José C Ferreira, Martha Feucht, Carla Fladrowski, Christoph Hertzberg, Sergiusz Jozwiak, John A Lawson, Alfons Macaya, Ruben Marques, Finbar O’Callaghan, Jiong Qin, Valentin Sander, Matthias Sauter, Seema Shah, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard Zonnenberg, Anna C Jansen, John C Kingswood

Last modified: 2018-09-09


Introduction: Epilepsy occurs in 70–90% of patients with tuberous sclerosis complex (TSC). Here we report the baseline and follow-up data of epilepsy from the final analysis of TOSCA study.

Methods: TOSCA, an international TSC registry, collected patient’s data at least once per year for 5 years. Data included seizure type, age at onset and treatment in association with genotype and intellectual ability.

Results: 1845/2211 (83.4%) patients had epilepsy (infantile spasms [IS:39.1%], focal seizures [FS:68.3%]) at baseline. The mean age at diagnosis of IS and FS was 0.4year and 2.7year, respectively. IS was higher in patients with TSC2 vs TSC1mutation (48.2% vs 22.4%). GABAergic drugs were the most common treatment, for both IS (79.3%) and FS (66.2%). Uncontrolled seizures were reported in 16.2%(IS) and 40.3%(FS) of patients. In the follow-ups (F1-F4), 17.1%, 15.0%, 12.9%, 13.3% of patients presented IS and 69.5%, 68.1%, 72.0%, 69.6% had FS, respectively. During the follow-up lack of seizure control increased from 57.2% to 68.2% (IS) and 75.1% to 80.5% (FS). Control of seizures was associated with lower rates of intellectual disability in both IS and FS groups.

Conclusions: FS were the most common form of epilepsy in the TOSCA study. IS was observed more in patients with TSC2 mutations. Follow-up data showed more patients with uncontrolled seizures, both IS and FS, despite greater use of GABAergic inhibitors and ACTH suggesting a high-level of pharmacoresistance. The number of patients decreased during the follow-ups, highlighting the difficulty of collection of data in international natural history registries.


Epilepsy; Tuberous sclerosis complex; TOSCA; Infantile spasms; Focal seizures

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