Tuberous sclerosis complex
- 1 April 2000
- journal article
- review article
- Published by Wolters Kluwer Health in Current Opinion in Neurology
- Vol. 13 (2) , 115-119
- https://doi.org/10.1097/00019052-200004000-00001
Abstract
Tuberous sclerosis complex is an autosomal dominant disorder that causes significant complications in multiple organ systems. Both basic science and clinical research on tuberous sclerosis complex have flourished in recent years, improving our understanding of its molecular genetics and pathophysiology. Two tuberous sclerosis complex genes cause nearly identical phenotypes, and great progress has been made towards understanding how each of these genes functions. The recognition of tuberous sclerosis complex improved with revised diagnostic criteria, and the management of many of the complications of tuberous sclerosis complex has improved.Keywords
This publication has 34 references indexed in Scilit:
- Tuberous Sclerosis Consensus Conference: Recommendations for Diagnostic EvaluationJournal of Child Neurology, 1999
- Comprehensive Mutation Analysis of TSC1 and TSC2—and Phenotypic Correlations in 150 Families with Tuberous SclerosisAmerican Journal of Human Genetics, 1999
- Imaging epileptogenic tubers in children with tuberous sclerosis complex usingα‐[11C]Methyl‐L‐tryptophan positron emission tomographyAnnals of Neurology, 1998
- The tuberous sclerosis complex: a comprehensive reviewJournal of the American College of Surgeons, 1998
- Tuberous SclerosisArchives of Neurology, 1998
- RENAL LESION GROWTH IN CHILDREN WITH TUBEROUS SCLEROSIS COMPLEXJournal of Urology, 1998
- Prevalence of hypopigmented macules in a healthy populationThe Journal of Pediatrics, 1996
- Loss of heterozygosity on chromosome 16p13.3 in hamartomas from tuberous sclerosis patientsNature Genetics, 1994
- Identification and characterization of the tuberous sclerosis gene on chromosome 16Cell, 1993
- Causes of Death in Patients With Tuberous SclerosisMayo Clinic Proceedings, 1991