Medical Overview and Epidemiology

Tuberous sclerosis complex (TSC) is a genetic disorder that produces hamartomatous growths in organs throughout the body, including the heart, kidney, skin, and brain. It occurs in approximately 1 in every 6,000 births and is the result of abnormalities in one or two genes, the TSC1 gene on chromosome 9 at 9q34 or the TSC2 gene on chromosome 16 at

16p 13.3 (Povey et al. 1994). In 30% of cases the inheritance is autosomal dominant. Cortical tubers are most commonly found in the frontal lobes, followed by parietal, temporal, cerebellar, and occipital lobes. It is possible that the tubers act as a focus for epilepsy, with electrophysiological disturbances creating abnormal responses throughout the neural connections. Approximately 60%-80% of TSC patients experience a seizure disorder.

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