title: Tuberous sclerosis complex.
abstract: Tuberous sclerosis complex is an autosomal-dominant, neurocutaneous, multisystem disorder characterized by cellular hyperplasia and tissue dysplasia. The genetic cause is mutations in the TSC1 gene, found on chromosome 9q34, and TSC2 gene, found on chromosome 16p13. The clinical phenotypes resulting from mutations in either of the 2 genes are variable in each individual. Herein, advances in the understanding of molecular mechanisms in tuberous sclerosis complex are reviewed, and current guidelines for diagnosis, treatment, follow-up, and management are summarized.
authors.affiliation: Department of Pediatrics, Neurogenetics-Tuberous Sclerosis Clinic, Connecticut Children's Medical Center, 282 Washington Street, Hartford, CT 06070, USA. Electronic address: fdimari@connecticutchildrens.org.
authors.forename: Francis J
authors.initials: FJ
authors.lastname: DiMario
authors.affiliation: Multidisciplinary Tuberous Sclerosis Program, Department of Neurology, Boston Children's Hospital, 300 Longwood Avenue, Boston, MA 02115, USA.
authors.forename: Mustafa
authors.initials: M
authors.lastname: Sahin
authors.affiliation: Department of Neurology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115, USA.
authors.forename: Darius
authors.initials: D
authors.lastname: Ebrahimi-Fakhari
mesh_terms: D002648:Child; D002885:Chromosomes, Human, Pair 16; D002899:Chromosomes, Human, Pair 9; D005838:Genotype; D006801:Humans; D000076222:Mechanistic Target of Rapamycin Complex 1; D058990:Molecular Targeted Therapy; D046912:Multiprotein Complexes / Q000037:antagonists & inhibitors; D009154:Mutation; D010641:Phenotype; D058570:TOR Serine-Threonine Kinases / Q000037:antagonists & inhibitors; D014402:Tuberous Sclerosis / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D000077004:Tuberous Sclerosis Complex 1 Protein; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins / Q000235:genetics
chemical_list: D046912:Multiprotein Complexes; C000624650:TSC1 protein, human; C000624653:TSC2 protein, human; D000077004:Tuberous Sclerosis Complex 1 Protein; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins; D000076222:Mechanistic Target of Rapamycin Complex 1; D058570:TOR Serine-Threonine Kinases
keywords: Autism; Epilepsy; Mechanistic target of rapamycin (mTOR); Neurocutaneous; Neurogenetic; Rapamycin; Subependymal giant cell astrocytoma; Tuberous sclerosis complex