Calcification in cerebral parenchyma affects pharmacoresistant epilepsy in tuberous sclerosis

Tuberous sclerosis (TSC) is an autosomal dominant inherited disease caused by mutations in the TSC1 or TSC2 gene and results in over-activation of the mammalian target of the rapamycin (mTOR) signaling pathway [1]. TSC produces hamartomatous lesions in the brain, kidney, skin, and other organs of the body. Epilepsy is observed in approximately 90% of patients with TSC, and approximately half of the patients have experienced infantile spasms (IS) and the majority are pharmacoresistant [2]. In children with TSC, uncontrolled seizure is associated with high risk of developmental delays and autism spectrum disorders [3].

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