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Tuberous Sclerosis (Bourneville's Disease) Summary

Description: An autosomal dominant disorder which is generally classified as a phacomatosis. Pathologically, the condition is characterized by glial cell tumors which arise in the cerebral hemispheres and retina. There is an increased incidence of benign rhabdomyomas of the heart and angiomyolipomas of kidney, liver, lungs, thyroid, and testes. Clinical manifestations include MENTAL RETARDATION; adenoma sebaceum of the face (actually angiofibromas); EPILEPSY; SPASMS, INFANTILE; Shagreen patches on the trunk; and subungual fibromas. (From Adams et al., Principles of Neurology, 6th ed, p1011)

Also Known As: Bourneville's Disease; Bourneville Phakomatosis; Bourneville Disease; Epiloia; Bourneville Syndrome Show All >>

Networked: 1495 relevant articles (68 outcomes, 113 trials/studies) for this Disease

Key Drugs and Agents for Tuberous Sclerosis

Efficacy Chart >>
Drugs and Important Biological Agents (IBA) related to treatments:
  1. Vigabatrin : 20 outcomes 7 studies in 60 results : FDA 2
  2. Sirolimus (Rapamycin) : 19 outcomes 37 studies in 314 results : FDA 2
  3. everolimus : 4 outcomes 16 studies in 73 results : FDA 2
  4. Adrenocorticotropic Hormone (ACTH) : 4 outcomes in 13 results : FDA 7
  5. tuberous sclerosis complex 2 protein (tuberin) : 2 outcomes 8 studies in 149 results : IBA
  6. Lennox-Gastaut type Epileptic encephalopathy : 2 outcomes 2 studies in 14 results : IBA
  7. Retinaldehyde (Retinal) : 2 outcomes 1 study in 60 results : IBA
  8. Anticonvulsants (Antiepileptic Drugs) : 2 outcomes in 9 results : IBA
  9. topiramate (Topamax) : 2 outcomes in 4 results : FDA 28 Generic
  10. tuberous sclerosis complex 1 protein (hamartin) : 1 outcome 6 studies in 94 results : IBA
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Diseases Related to Tuberous Sclerosis

  1. Infantile Spasms (West Syndrome)
  2. Epilepsy (Aura)
  3. Neoplasms (Cancer)
  4. Seizures (Seizure)
  5. Angiomyolipoma
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Key Therapies for Tuberous Sclerosis

Efficacy Chart >>
  1. Nephrectomy : 2 outcomes 1 study in 39 results
  2. Vagus Nerve Stimulation : 2 outcomes 1 study in 5 results
  3. Dye Lasers : 2 outcomes in 5 results
  4. Kidney Transplantation : 1 outcome in 12 results
  5. Lasers (Laser) : 1 outcome in 12 results
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