Unraveling the molecular and cellular mechanisms of neurological dysfunction in Tuberous Sclerosis Complex

Tuberous Sclerosis Complex (TSC) is a multi-organ disorder, which is characterized by the development of benign malformations and specific neurological and psychiatric symptoms. It was first formally described by the neurologist Bourneville in 1880, based on a female patient who presented with epilepsy, skin tags, facial rash, and sclerotic areas in some of the cerebral convolutions on pathological examination of the brain. TSC is a relatively common genetic syndrome with a birth incidence of 1:60001. Although all major organs are susceptible to TSC, the most frequently affected are the brain, skin, kidneys, heart, lung and eye. None of the manifestations associated with TSC is pathognomonic for the disorder and accordingly, diagnosis is made based on the presence of combinations of major and minor disease features, as revealed by clinical, radiological and pathological examination.