Tuberous sclerosis complex - PubMed

7 hours ago

Tuberous sclerosis complex (TSC) is a rare genetic disease caused by loss-of-function variants in TSC1 or TSC2.
Patients develop benign tumors (hamartomas) in multiple organs, including the brain, kidneys, and skin.
Key disabling features include epilepsy and TSC-associated neuropsychiatric disorders (TAND) like intellectual disability and autism.
The disease is linked to mTOR pathway dysregulation due to TSC1/TSC2 complex dysfunction.
Rapalogues (mTOR inhibitors) are approved treatments for certain TSC manifestations but not for TAND or refractory epilepsy.
Research continues to address unmet needs in TAND and refractory epilepsy management.

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