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PMID: 16818173 Published · ppublish English

The diverse clinical manifestations of tuberous sclerosis complex: a review.

Seminars in pediatric neurology ·Vol. 13 ·No. 1 ·2006-09-05

Rosser Tena, Panigrahy Ashok, McClintock William

Abstract

Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem neurocutaneous disorder. TSC results in hamartomatous lesions primarily involving the skin, central nervous system, kidneys, eyes, heart, and lungs. The clinical findings and severity of TSC are highly variable. Recent advances in our understanding of the complexities of the TSC1 and TSC2 genes are making genotype-phenotype correlations possible. While managing seizures, cognitive dysfunction, and behavioral abnormalities are the primary responsibility of the neurologist, familiarity with all aspects of this disease helps provide better comprehensive care for affected individuals.

Article Info
Journal
Seminars in pediatric neurology
Abbr.
Semin Pediatr Neurol
Published
2006-09-05
Indexed
2006-07-04
Updated
2012-11-15
Language
English
Country/Region
United States
NLM ID
9441351
Analysis Services
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