@article{8a66540b4eba4057a8b832612654f385,
title = "Epilepsy Risk Prediction Model for Patients With Tuberous Sclerosis Complex",
abstract = "Background: Individuals with tuberous sclerosis complex are at increased risk of epilepsy. Early seizure control improves developmental outcomes, making identifying at-risk patients critically important. Despite several identified risk factors, it remains difficult to predict. The purpose of the study was to evaluate the combined risk prediction of previously identified risk factors for epilepsy in individuals with tuberous sclerosis complex. Methods: The study group (n = 333) consisted of individuals with tuberous sclerosis complex who were enrolled in the Tuberous Sclerosis Complex Autism Center of Excellence Research Network and UT TSC Biobank. The outcome was defined as having an epilepsy diagnosis. Potential risk factors included sex, TSC genotype, and tuber presence. Logistic regression was used to calculate the odds ratio and P value for the association between each variable and epilepsy. A clinical risk prediction model incorporating all risk factors was built. Area under the curve was calculated to characterize the full model's ability to discriminate individuals with tuberous sclerosis complex with and without epilepsy. Results: The strongest risk for epilepsy was presence of tubers (95% confidence interval: 2.39 to 10.89). Individuals with pathogenic TSC2 variants were three times more likely (95% confidence interval: 1.55 to 6.36) to develop seizures compared with those with tuberous sclerosis complex from other causes. The combination of risk factors resulted in an area under the curve 0.73. Conclusions: Simple characteristics of patients with tuberous sclerosis complex can be combined to successfully predict epilepsy risk. A risk assessment model that incorporates sex, TSC genotype, protective TSC2 missense variant, and tuber presence correctly predicts epilepsy in 73% of patients with tuberous sclerosis complex.",
keywords = "Epilepsy, Genotype, Risk factors, Risk prediction model, Seizures, Tuberous sclerosis complex (TSC)",
author = "{TACERN Study Group} and Farach, {Laura S.} and Richard, {Melissa A.} and Lupo, {Philip J.} and Mustafa Sahin and Krueger, {Darcy A.} and Wu, {Joyce Y.} and Bebin, {Elizabeth M.} and Au, {Kit Sing} and Hope Northrup and M. Sahin and D. Krueger and M. Bebin and Wu, {J. Y.} and H. Northrup and S. Warfield and J. Peters and B. Scherrer and M. Goyal and R. Filip-Dhima and K. Dies and S. Bruns and E. Hanson and N. Bing and B. Kent and S. O'Kelley and Williams, {M. E.} and D. Pearson and G. Cutter and S. Roberds and Murray, {D. S.}",
note = "Funding Information: Conflicts of interest: Mustafa Sahin reports grant support from Novartis, Roche, Pfizer, Ipsen, LAM Therapeutics, and Quadrant Biosciences. He has served on Scientific Advisory Boards for Sage, Roche, Celgene, Aeovian, Regenxbio, and Takeda; he also serves an an associate editor for Pediatric Neurology. Darcy Krueger reports consulting fees and/or research support from Novartis Pharmaceuticals, TS Alliance, Druggability Technologies, Greenwich Biosciences, and Marinus Pharmaceuticals. Dr. Krueger has also received speaking fees from Novartis Pharmaceuticals and Greenwich Biosciences; Joyce Wu reports research support from NIH, TS Alliance, Novartis, GW Pharmaceuticals, and has served on Scientific Advisory Boards and Speaker Bureaus for Novartis and GW Pharmaceuticals. Elizabeth Bebin reports research support from GW Pharmaceuticals and serves on the Scientific Advisory Boards for Regenxbio, Biocodex, GW Pharmaceuticals. No other authors have conflicts of interests to disclose. Funding Information: Funding: This work was supported by the Autism Center of Excellence Network [1U01NS082320-01], the Developmental Synaptopathies Consortium [1U54NS092090-01], and the Department of Defense [W81XWH1810537]. The Developmental Synaptopathies Consortium [U54NS092090] is part of the Rare Diseases Clinical Research Network (RDCRN), an initiative of the Office of Rare Diseases Research (ORDR), National Center for Advancing Translational Sciences (NCATS). Research reported in this publication was supported by the National Institute of Neurological Disorders and Stroke of the National Institutes of Health (NINDS), Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD), National Institute of Mental Health (NIMH), and National Center for Advancing Translational Sciences (NCATS). Funding Information: Funding: This work was supported by the Autism Center of Excellence Network [ 1U01NS082320-01 ], the Developmental Synaptopathies Consortium [ 1U54NS092090-01 ], and the Department of Defense [ W81XWH1810537 ]. The Developmental Synaptopathies Consortium [ U54NS092090 ] is part of the Rare Diseases Clinical Research Network (RDCRN), an initiative of the Office of Rare Diseases Research (ORDR), National Center for Advancing Translational Sciences (NCATS). Research reported in this publication was supported by the National Institute of Neurological Disorders and Stroke of the National Institutes of Health (NINDS), Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD), National Institute of Mental Health (NIMH), and National Center for Advancing Translational Sciences (NCATS). Publisher Copyright: {\textcopyright} 2020 Elsevier Inc.",
year = "2020",
month = dec,
doi = "10.1016/j.pediatrneurol.2020.07.015",
language = "English (US)",
volume = "113",
pages = "46--50",
journal = "Pediatric Neurology",
issn = "0887-8994",
publisher = "Elsevier Inc.",
}