Epilepsy Management in Tuberous Sclerosis Complex: Existing and Evolving Therapies and Future Considerations Journal Articles uri icon

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abstract

  • Tuberous sclerosis complex (TSC) is a rare autosomal dominant condition that affects multiple body systems. Disruption of the mammalian target of rapamycin (mTOR) pathway results in abnormal cell growth, proliferation, protein synthesis, and cell differentiation and migration in TSC. In the central nervous system, mTOR disruption is also believed to influence neuronal excitability and promote epileptogenesis. Epilepsy is the most common neurological manifestation of TSC and affects 80% to 90% of individuals with high rates of treatment resistance (up to 75%). The onset of epilepsy in the majority of individuals with TSC occurs before the age of two¬†years, which is a critical time in neurodevelopment. Both medically refractory epilepsy and early-onset epilepsy are associated with intellectual disability in TSC, while seizure control and remission are associated with lower rates of cognitive impairment. Our current knowledge of the treatment of epilepsy in TSC has expanded immensely over the last decade. Several new therapies such as preemptive vigabatrin therapy in infants, cannabidiol, and mTOR inhibitors have emerged in recent years for the treatment of epilepsy in TSC. This review will provide clinicians with a comprehensive overview of the pharmacological and nonpharmacological therapies available for the treatment of epilepsy related to TSC.

publication date

  • January 2022