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Home > Tuberous Sclerosis


Tuberous sclerosis is a rare genetic, neurological disorder primarily characterized by seizures, mental retardation, and skin and eye lesions. In some cases, neurobehavioral problems may also occur. Individuals with tuberous sclerosis may experience none or all of the symptoms with varying degrees of severity. Tuberous sclerosis is a multi-system disease that can affect the brain, kidneys, heart, eyes, lungs, and other organs. Small benign tumors may grow on the face and eyes, as well as in the brain, kidneys, and other organs. Neuroimaging studies may be able to confirm the diagnosis. Seizures most often begin in the first year of life.

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Tuberous sclerosis is caused by mutation in either of two genes- TSC1 or TSC2. These genes function as a complex to inhibit the mTOR signaling pathway by acting as a Rheb GTPase.



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