ABSTRACT

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that affects one in eight to 10,000 live births. The clinical pathology has been recognized for over a century, and recent research has yielded major breakthroughs not only in the genetics of this disease but also in the molecular pathophysiology. This chapter will address the clinical features and molecular genetics of TSC as well as the impact that research findings have had on the clinical progression of TSC.