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Pediatr Clin North Am. 2015 Jun;62(3):633-48. doi: 10.1016/j.pcl.2015.03.005. Epub 2015 Apr 11.

Tuberous sclerosis complex.

Author information

1
Department of Pediatrics, Neurogenetics-Tuberous Sclerosis Clinic, Connecticut Children's Medical Center, 282 Washington Street, Hartford, CT 06070, USA. Electronic address: fdimari@connecticutchildrens.org.
2
Multidisciplinary Tuberous Sclerosis Program, Department of Neurology, Boston Children's Hospital, 300 Longwood Avenue, Boston, MA 02115, USA.
3
Department of Neurology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115, USA.

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.

KEYWORDS:

Autism; Epilepsy; Mechanistic target of rapamycin (mTOR); Neurocutaneous; Neurogenetic; Rapamycin; Subependymal giant cell astrocytoma; Tuberous sclerosis complex

PMID:
26022167
DOI:
10.1016/j.pcl.2015.03.005
[Indexed for MEDLINE]
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