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Tuberous Sclerosis (Bourneville's Disease)

Autosomal dominant neurocutaneous syndrome classically characterized by MENTAL RETARDATION; EPILEPSY; and skin lesions (e.g., adenoma sebaceum and hypomelanotic macules). There is, however, considerable heterogeneity in the neurologic manifestations. It is also associated with cortical tuber and HAMARTOMAS formation throughout the body, especially the heart, kidneys, and eyes. Mutations in two loci TSC1 and TSC2 that encode hamartin and tuberin, respectively, are associated with the disease.
Also Known As:
Bourneville's Disease; Bourneville Phakomatosis; Bourneville Disease; Epiloia; Adenoma Sebaceum; Bourneville Syndrome; Bourneville's Syndrome; Bourneville-Pringle Disease; Bourneville-Pringle's Disease; Cerebral Sclerosis; Phacomatosis, Bourneville; Sclerosis Tuberosa; Tuberose Sclerosis; Tuberous Sclerosis Complex; Bourneville Phacomatosis; Bourneville Pringle Disease; Bourneville Pringle's Disease; Bourneville-Pringles Disease; Cerebral Scleroses; Disease, Bourneville-Pringle; Disease, Bourneville-Pringle's; Sclerosis, Cerebral; Sclerosis, Tuberose; Sclerosis, Tuberous; Syndrome, Bourneville; Syndrome, Bourneville's; Phakomatosis, Bourneville
Networked: 4430 relevant articles (142 outcomes, 322 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Infantile Spasms (West Syndrome)
2. Angiomyolipoma
3. Seizures (Absence Seizure)
4. Angiofibroma
5. Epilepsy (Aura)

Experts

1. Kwiatkowski, David J: 105 articles (01/2022 - 03/2002)
2. Sahin, Mustafa: 86 articles (01/2022 - 10/2006)
3. Curatolo, Paolo: 79 articles (03/2022 - 01/2002)
4. Thiele, Elizabeth A: 65 articles (09/2022 - 10/2002)
5. Kotulska, Katarzyna: 64 articles (11/2022 - 02/2004)
6. Jozwiak, Sergiusz: 58 articles (11/2022 - 10/2002)
7. Henske, Elizabeth P: 58 articles (01/2022 - 03/2002)
8. Aronica, Eleonora: 53 articles (11/2022 - 10/2004)
9. Moss, Joel: 50 articles (01/2022 - 03/2002)
10. de Vries, Petrus J: 49 articles (01/2022 - 02/2007)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Tuberous Sclerosis:
1. trans-sodium crocetinate (crocetin)IBA
2. Sirolimus (Rapamycin)FDA Link
3. VigabatrinFDA Link
4. EverolimusFDA Link
5. TOR Serine-Threonine KinasesIBA
6. MTOR InhibitorsIBA
7. CannabidiolIBA
8. Adrenocorticotropic Hormone (ACTH)FDA Link
9. Mechanistic Target of Rapamycin Complex 1IBA
10. Proteins (Proteins, Gene)FDA Link

Therapies and Procedures

1. Therapeutics
2. Vagus Nerve Stimulation
3. Drug Therapy (Chemotherapy)
4. Aftercare (After-Treatment)
5. Gas Lasers