The neurobiology of tuberous sclerosis complex.
Tuberous sclerosis complex (TSC) is a multiorgan genetic disease caused by inactivation of either the TSC1 or TSC2 genes. The disorder typically has profound neurologic involvement and often presents early in life with epilepsy, developmental delay, mental retardation, and autism. These features are generally accepted to result from structural brain abnormalities that are found in patients with TSC. Although much progress has recently been made in discerning the function(s) of the TSC genes, many questions remain as to the role of these genes in brain development and homeostasis. This review will summarize recent progress and suggest future avenues of basic science research.
Ess
Kevin C
KC
Departments of Neurology and Pediatrics, Washington University School of Medicine, St Louis, MO, USA. kevin.ess@vanderbilt.edu
D000818:Animals; D004195:Disease Models, Animal; D006801:Humans; D008954:Models, Biological; D009446:Neurobiology; D015398:Signal Transduction / Q000235:genetics; D014402:Tuberous Sclerosis / Q000235:genetics / Q000503:physiopathology