Pediatric refractory epilepsy related to tuberous sclerosis complex: A retrospective-cohort study of diagnosis and treatment

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder (1 in 6,000–10,000), which is often caused by loss-of-function mutations in the TSC1 or TSC2 genes [1,2]. These mutations cause hyperactivation of the mechanistic target of rapamycin (mTOR) pathway and affect many organ systems. Related benign tumors may result in a variety of clinical manifestations such as seizures, skin lesions, autism spectrum disorder, and cognitive delay [3].

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