Tuberous Sclerosis (Bourneville's Disease)

• genetic/familial neurodevelopmental disease involving genes TSC-1 on chromosome 9q34, and TSC-2 on 16p coding for a protein called Tuberin
• This leads to:
  • epilepsy
  • multiple cerebral hemartomas (cortical tubers)
  • subependymal astrocytomas
  • characteristic skin lesions (adenoma sebaceum, etc)