Article
Applying the Lessons of Tuberous Sclerosis: The 2015 Hower Award Lecture.
Pediatric neurology - 1 Oct 2016
Roach E Steve
Abstract excerpt
Tuberous sclerosis complex is a dominantly inherited disorder that variably affects the brain, skin, kidneys, heart, and other organs. Its neurological manifestations include epilepsy, autism, cognitive and behavioral dysfunction, and giant cell tumors. A mutation of either TSC1 or TSC2 can cause tuberous sclerosis complex. Their two gene products, hamartin and tuberin, form a physical complex which normally...
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