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Tuberous Sclerosis

  • Amanda BergnerEmail author
Chapter

Abstract

Tuberous sclerosis complex (TSC) is the second most common primary neurocutaneous syndrome. TSC is an autosomal dominant genetic condition due to mutations in the TSC1 or TSC2 gene. TSC is fully penetrant with intra- and inter-familial variable expressivity. Approximately two-thirds of TSC cases have de novo mutations. TSC is a progressive condition with seizures/infantile spasms, autism with developmental delay, and classic cutaneous manifestations. Complications include tumors of the kidneys, heart, and lungs. Psychiatric symptoms can also be a problem. Families coming for genetic testing need a great deal of support.

Keywords

Genetic Testing Tuberous Sclerosis Complex Autosomal Dominant Polycystic Kidney Disease Preimplantation Genetic Diagnosis Prenatal Testing 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Supplementary material

Tuberous sclerosis (MOV 369,693 kb)

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Copyright information

© Springer Science+Business Media New York 2015

Authors and Affiliations

  1. 1.McKusick-Nathans Institute of Genetic MedicineJohns Hopkins University School of MedicineBaltimoreUSA
  2. 2.Department of NeurologyJohns Hopkins University School of MedicineBaltimoreUSA

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