[Therapeutic possibilities in refractory epilepsy in tuberous sclerosis complex]

Area of Science:

• Neurology
• Pediatrics
• Genetics

Background:

• Tuberous Sclerosis Complex (TSC) frequently presents with challenging epilepsy.
• This epilepsy significantly impacts patients' quality of life and cognitive development.

Purpose of the Study:

• To characterize the epidemiology and clinical features of epilepsy in pediatric TSC patients.
• To evaluate current treatment strategies and outcomes for epilepsy in TSC.

Main Methods:

• Retrospective review of medical records for 30 pediatric patients diagnosed with TSC and epilepsy.
• Analysis of seizure onset, epilepsy type, medication resistance, and treatment modalities.

Main Results:

• Epilepsy onset in TSC patients ranged from 1 month to 4 years, initially presenting as partial seizures.
• 19 out of 30 patients had medication-resistant epilepsy; 63.3% had uncontrolled seizures.
• Treatments included various antiepileptic drugs, ACTH, vagal nerve stimulators, everolimus, and surgery.

Conclusions:

• Epilepsy is a prevalent early-onset condition in TSC, often resistant to medication.
• Poor seizure control correlates with cognitive impairments like intellectual disability and autism spectrum disorder.
• Emerging therapies like mTOR inhibitors, surgery, and vagal nerve stimulation show promise.