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].

Read More...

Leave a comment.

Your email address will not be published. Required fields are marked*

Andoird App
Loading...