Applying the Lessons of Tuberous Sclerosis: The 2015 Hower Award Lecture

Abstract 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...

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Veröffentlicht in:	Pediatric neurology 2016-10, Vol.63, p.6-22
1. Verfasser:	Roach, E. Steve, MD
Format:	Artikel
Sprache:	eng
Schlagworte:	Awards and Prizes Brain Neoplasms - diagnostic imaging Brain Neoplasms - genetics Brain Neoplasms - therapy Congresses as Topic epilepsy Epilepsy - diagnostic imaging Epilepsy - genetics Epilepsy - therapy everolimus history Humans mTOR Mutation - genetics Neurology Pediatrics rapamycin subependymal giant cell astrocytoma Tuberous Sclerosis - diagnostic imaging Tuberous Sclerosis - genetics Tuberous Sclerosis - therapy tuberous sclerosis complex
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