Abstracts

Rationale: Tuberous sclerosis (TSC) patients frequently suffer medically intractable epilepsy, causing substantial morbidity. A subset of these patients have ictal semiology similar to patients with Dravet's syndrome, including frequent atonic and myoclonic seizures as well as an epileptic encephalopathy. Medications effective for Dravet's syndrome such as clobazam and cannabidiol can also benefit epilepsy in TSC patients. We reviewed patients with TSC who received stiripentol as a treatment for intractable epilepsy when features similar to that of Dravet's syndrome were present.

Methods: A retrospective chart review was undertaken of patients followed at the Cincinnati Children's Hospital TSC clinic. Patients were identified who have clinically or genetically definite TSC, medically intractable epilepsy with frequent atonic/myoclonic seizures, and received treatment with stiripentol.

Results: From a total clinic population of 1405 TSC patients, 13 were identified that fulfilled inclusion criteria. These patients included 10 males and 3 females. Age range was 3 to 39 years with an average of 15 years and a median of 14 years. All patients had tried and failed greater than 10 antiepileptic drugs, and been evaluated for or undergone epilepsy surgery, and received mTOR inhibitors for epilepsy. Most had undergone additional therapies such as vagus nerve stimulation, bromides, and ketogenic diet. 10 of the 13 patients (77%) were judged to be responders, having subjectively a greater than 50% reduction in seizure frequency based on caregiver assessment. These patients were also noted to improved alertness and behavior. These assessments were also based on caregiver assessment. All responders remained on stiripentol at the time of chart review. 3 patients did not respond, and were taken off stiripentol. 1 non-responder had worse behavior, another had increased seizure frequency, and a third had no response. Adverse events observed were consistent with those reported for stiripentol use in Dravet's syndrome.

Conclusions: This retrospective study suggests that stiripentol may have utility in the treatment of intractable epilepsy in TSC patients. This response may be superior in TSC patients who have a "Dravet's like" epilepsy phenotype. Further clinical studies are necessary to confirm and better delineate this finding.

Funding: Please list any funding that was received in support of this abstract.: None.