Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational
Official Title: Epidemiological Study of the Genetic Heterogeneity and Genotype-phenotype Correlation of Children and Adults With Tuberous Sclerosis Complex
Brief Summary: Association of specific mutations (genotype) after sequencing the TSC1 and TSC2 gene with the clinical manifestations (phenotype) of the tuberous sclerosis complex in a cohort of clinically well characterized tuberous sclerosis complex patients. The obtained samples will be used to establish a tandem-MS-based biomarker.