World J Pediatr 2022 Jun 27. Epub 2022 Jun 27.
Department of Psychiatry and Behavioral Sciences, Emory University School of Medicine, Whitehead Research Building 447, 615 Michael Street, Atlanta, GA, 30322, USA.
Background: Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder with a birth incidence of 1:6000 in the United States that is characterized by the growth of non-cancerous tumors in multiple organ systems including the brain, kidneys, lungs, and skin. Importantly, TSC is also associated with significant neurological manifestations including epilepsy, TSC-associated neuropsychiatric disorders, intellectual disabilities, and autism spectrum disorder. Mutations in the TSC1 or TSC2 genes are well-established causes of TSC, which lead to TSC1/TSC2 deficiency in organs and hyper-activation of the mammalian target of rapamycin signaling pathway. Read More