Skip to search formSkip to main contentSkip to account menu

Tuberous Sclerosis

Known as: Bourneville Syndrome, Phacomatosis, Bourneville, TSC 
Autosomal dominant neurocutaneous syndrome classically characterized by MENTAL RETARDATION; EPILEPSY; and skin lesions (e.g., adenoma sebaceum and… 
National Institutes of Health

Related topics

Related topics

43 relations
AngiomyolipomaAngiomyolipoma of kidneyBenign NeoplasmBenign Uterine Corpus PEComa
Expand

Broader (6)

Congenital DisordersCongenital anomaly of brainCongenital disease of brainDemyelination
Expand

Narrower (5)

Fibrous skin tumor of tuberous sclerosisPolycystic kidneys, severe infantile with tuberous sclerosisTUBEROUS SCLEROSIS 1 (disorder)TUBEROUS SCLEROSIS 2 (disorder)
Expand

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2013
Review
2013
Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 Iinternational Tuberous Sclerosis Complex Consensus Conference.
Highly Cited
2008
Highly Cited
2008
Sirolimus for angiomyolipoma in tuberous sclerosis complex or lymphangioleiomyomatosis.
BACKGROUND Angiomyolipomas in patients with the tuberous sclerosis complex or sporadic lymphangioleiomyomatosis are associated… 
Highly Cited
2008
Highly Cited
2008
Reversal of learning deficits in a Tsc2+/− mouse model of tuberous sclerosis
Tuberous sclerosis is a single-gene disorder caused by heterozygous mutations in the TSC1 (9q34) or TSC2 (16p13.3) gene and is… 
Highly Cited
2008
Highly Cited
2008
Rapamycin prevents epilepsy in a mouse model of tuberous sclerosis complex
Tuberous sclerosis complex (TSC) represents one of the most common genetic causes of epilepsy. TSC gene inactivation leads to… 
Review
2006
Review
2006
The tuberous sclerosis complex.
From the Department of Neurology (P.B.C.) and the Division of Medical Genetics (K.L.N.), University of Pennsylvania Medical… 
Highly Cited
2006
Highly Cited
2006
Rapamycin causes regression of astrocytomas in tuberous sclerosis complex
Tuberous sclerosis complex (TSC) is a genetic disorder characterized by the formation of hamartomas in multiple organs. Five to… 
Review
1998
Review
1998
Tuberous Sclerosis Complex Consensus Conference: Revised Clinical Diagnostic Criteria
At the recent tuberous sclerosis complex consensus conference, the clinical diagnostic criteria for tuberous sclerosis complex… 
Highly Cited
1998
Highly Cited
1998
Axonal transection in the lesions of multiple sclerosis.
BACKGROUND Multiple sclerosis is an inflammatory demyelinating disease of the central nervous system and is the most common cause… 
Highly Cited
1995
Highly Cited
1995
Case report.
Background: Fetal cardiac rhabdomyoma is a rare condition. Case: We report a case with cardiac mass discovered in utero by… 
Highly Cited
1993
Highly Cited
1993
Identification and characterization of the tuberous sclerosis gene on chromosome 16
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy, Terms of Service, and Dataset License