{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Ebrahimi-Fakhari D"],"funding":["Novartis Pharma","German Tuberous Sclerosis Foundation (Deutsche Tuberöse Sklerose Stiftung)"],"pagination":["117"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC6050673"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["13(1)"],"pubmed_abstract":["<h4>Background</h4>Tuberous Sclerosis Complex (TSC) is a rare multisystem disorder. In 2012 diagnostic criteria for TSC were revised. However, data on the incidence of TSC are limited.<h4>Methods</h4>Prospective, national surveillance study in Germany over a 2-year-period (03/2015-02/2017) using current revised criteria for TSC. Patients up to the age of 18 years with a new diagnosis of definite or possible TSC (clinical and/or genetic) were included. The aims of this study were 1) to generate up-to-date data on the incidence of definite or possible TSC, 2) to assess age at first diagnosis, and 3) to compare these data with previous epidemiologic data.<h4>Results</h4>In total, 86 patients met inclusion criteria (definite or possible TSC) with a median age at diagnosis of 6 months (range: 5"],"journal":["Orphanet journal of rare diseases"],"pubmed_title":["Incidence of tuberous sclerosis and age at first diagnosis: new data and emerging trends from a national, prospective surveillance study."],"pmcid":["PMC6050673"],"funding_grant_id":["PNR 05/15","FPJ 0716"],"pubmed_authors":["Meyer S","Graf N","Flotats-Bastardas M","von Kries R","Ebrahimi-Fakhari D","Mann LL","Poryo M","Gortner L","Zemlin M","Heinrich B"],"additional_accession":[]},"is_claimable":false,"name":"Incidence of tuberous sclerosis and age at first diagnosis: new data and emerging trends from a national, prospective surveillance study.","description":"<h4>Background</h4>Tuberous Sclerosis Complex (TSC) is a rare multisystem disorder. In 2012 diagnostic criteria for TSC were revised. However, data on the incidence of TSC are limited.<h4>Methods</h4>Prospective, national surveillance study in Germany over a 2-year-period (03/2015-02/2017) using current revised criteria for TSC. Patients up to the age of 18 years with a new diagnosis of definite or possible TSC (clinical and/or genetic) were included. The aims of this study were 1) to generate up-to-date data on the incidence of definite or possible TSC, 2) to assess age at first diagnosis, and 3) to compare these data with previous epidemiologic data.<h4>Results</h4>In total, 86 patients met inclusion criteria (definite or possible TSC) with a median age at diagnosis of 6 months (range: 5","dates":{"release":"2018-01-01T00:00:00Z","publication":"2018 Jul","modification":"2025-04-05T13:13:52.479Z","creation":"2019-03-26T23:47:08Z"},"accession":"S-EPMC6050673","cross_references":{"pubmed":["30016967"],"doi":["10.1186/s13023-018-0870-y"]}}