Genetic Etiologies, Diagnosis, and Treatment of Tuberous Sclerosis Complex

Abstract excerpt

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that affects multiple organ systems due to an inactivating variant in either TSC1 or TSC2, resulting in the hyperactivation of the mechanistic target of rapamycin (mTOR) pathway. Dysregulated mTOR signaling results in increased cell growth and proliferation. Clinically, TSC patients exhibit great phenotypic variability, but the neurologic and...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to PI3K/AKT/mTOR signaling in cancer
• Share to Polyomavirus and related diseases
• Share to Tuberous Sclerosis Complex Research