Tuberous Sclerosis registry to increase disease Awareness (TOSCA): baseline data on 2093 patients
Open accessAbstract
BACKGROUND: Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder. Many gaps remain in the understanding of TSC because of the complexity in clinical presentation. The TuberOus SClerosis registry to increase disease Awareness (TOSCA) is an international disease registry designed to address knowledge gaps in the natural history and management of TSC. Here, we present the baseline data of TOSCA cohort. METHODS: Patients of any age diagnosed with TSC, having a documented visit for TSC within the preceding 12 months, or newly diagnosed individuals were included. The registry includes a "core" section designed to record detailed background information on each patient including disease manifestations, interventions, and outcomes collected at baseline and updated annually. "Subsections" of the registry recorded additional data related to specific features of TSC. RESULTS: Baseline "core" data from 2093 patients enrolled from 170 sites across 31 countries were available at the cut-off date September 30, 2014. Median age of patients at enrollment was 13 years (range, 0-71) and at diagnosis of TSC was 1 year (range, 0-69). The occurrence rates of major manifestations of TSC included - cortical tubers (82.2%), subependymal nodules (78.2%), subependymal giant cell astrocytomas (24.4%), renal angiomyolipomas (47.2%), lymphangioleiomyomatosis (6.9%), cardiac rhabdomyomas (34.3%), facial angiofibromas (57.3%), forehead plaque (14.1%), ≥ 3 hypomelanotic macules (66.8%), and shagreen patches (27.4%). Epilepsy was reported in 1748 (83.5%) patients, of which 1372 were diagnosed at ≤ 2 years (78%). Intellectual disability was identified in 451 (54.9%) patients of those assessed. TSC-associated neuropsychiatric disorders (TAND) were diagnosed late, and not evaluated in 30-50% of patients. CONCLUSION: TOSCA is the largest clinical case series of TSC to date. It provided a detailed description of the disease trajectory with increased awareness of various TSC manifestations. The rates of different features of TSC reported here reflect the age range and referral patterns of clinics contributing patients to the cohort. Documentation of TAND and LAM was poor. A widespread adoption of the international TSC assessment and treatment guidelines, including use of the TAND Checklist, could improve surveillance. The registry provides valuable insights into the necessity for monitoring, timing, and indications for the treatment of TSC.
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Tuberous sclerosis-associated neuropsychiatric disorders have been reported in the pediatric and adult TSC populations.
“Tuberous sclerosis–associated neuropsychiatric disorders have been reported in the pediatric and adult TSC populations.13,14”
From Association of Cognitive and Behavioral Features Between Adults With Tuberous Sclerosis and Frontotemporal Dementia (2020) · cites this paper as [13]
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The Tuberous Sclerosis Complex
Crino, P. B., Nathanson, K. L., & Henske, E. P. (2006) · New England Journal of Medicine · doi:10.1056/nejmra055323 · Cited by 1,793 · see citing works
The TSC1–TSC2 complex: a molecular switchboard controlling cell growth
Huang, J., & Manning, B. D. (2008) · Biochemical Journal · doi:10.1042/bj20080281 · Cited by 1,237 · cited 1× · see citing works
“Mutations of TSC1 or TSC2 gene result in overactivation of the mammalian target of rapamycin (mTOR) complex 1, a key intracellular regulator of cell growth and proliferation, resulting in the hamartomatous lesions found in multiple organs [5, 6].”
BackgroundCuratolo, P., Bombardieri, R., & Jóźwiak, S. (2008) · The Lancet · doi:10.1016/s0140-6736(08)61279-9 · Cited by 1,106 · see citing works
Self-citationEfficacy and safety of sirolimus in lymphangioleiomyomatosis
McCormack, F. X., Inoue, Y., Moss, J., Singer, L. G., Strange, C., Nakata, K., Barker, A. F., Chapman, J. T., Brantly, M. L., Stocks, J. M., et al. (2011) · New England Journal of Medicine · doi:10.1056/nejmoa1100391 · Cited by 1,099 · see citing works
Tuberous Sclerosis Complex Consensus Conference: Revised Clinical Diagnostic Criteria
Roach, E. S., Gómez, M. R., & Northrup, H. (1998) · Journal of Child Neurology · doi:10.1177/088307389801301206 · Cited by 1,087 · see citing works
Dabora, S. L., Jóźwiak, S., Franz, D. N., Roberts, P. S., Nieto, A., Chung, J., Choy, Y.-S., Reeve, M. P., Thiele, E. A., Egelhoff, J. C., et al. (2001) · The American Journal of Human Genetics · doi:10.1086/316951 · Cited by 998 · see citing works
Bissler, J. J., Kingswood, J. C., Radzikowska, E., Zonnenberg, B. A., Frost, M., Белоусова, Е. Д., Sauter, M., Nonomura, N., Brakemeier, S., de Vries, P. J., et al. (2013) · The Lancet · doi:10.1016/s0140-6736(12)61767-x · Cited by 880 · see citing works
Self-citationKrueger, D. A., Northrup, H., Northrup, H., Krueger, D. A., Roberds, S. L., Smith, K., Sampson, J. R., Korf, B. R., Kwiatkowski, D. J., Mowat, D. R., et al. (2013) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2013.08.002 · Cited by 851 · see citing works
Self-citationEpidemiology of Tuberous Sclerosis
OSBORNE, J., Fryer, A. E., & Webb, D. W. (1991) · Annals of the New York Academy of Sciences · doi:10.1111/j.1749-6632.1991.tb37754.x · Cited by 733 · see citing works
Neurological and neuropsychiatric aspects of tuberous sclerosis complex
Curatolo, P., Moavero, R., & de Vries, P. J. (2015) · The Lancet Neurology · doi:10.1016/s1474-4422(15)00069-1 · Cited by 600 · see citing works
Self-citationCauses of Death in Patients With Tuberous Sclerosis
Shepherd, C. W., Gómez, M. R., Lie, J. T., & Crowson, C. S. (1991) · Mayo Clinic Proceedings · doi:10.1016/s0025-6196(12)61196-3 · Cited by 555 · see citing works
Renal manifestations of tuberous sclerosis complex: Incidence, prognosis, and predictive factors
Rakowski, S. K., Winterkorn, E. B., Paul, E., Steele, D., Halpern, E. F., & Thiele, E. A. (2006) · Kidney International · doi:10.1038/sj.ki.5001853 · Cited by 487 · see citing works
Everolimus treatment of refractory epilepsy in tuberous sclerosis complex
Krueger, D. A., Wilfong, A. A., Holland‐Bouley, K. D., Anderson, A. E., Agricola, K. D., Tudor, C., Mays, M., Lopez, C., Kim, M., & Franz, D. N. (2013) · Annals of Neurology · doi:10.1002/ana.23960 · Cited by 389 · see citing works
Jóźwiak, S., Kotulska, K., Domańska‐Pakieła, D., Łojszczyk, B., Syczewska, M., Chmielewski, D., Dunin-Wąsowicz, D., Kmieć, T., Szymkiewicz–Dangel, J., Borszewska-Kornacka, M. K., et al. (2011) · European Journal of Paediatric Neurology · doi:10.1016/j.ejpn.2011.03.010 · Cited by 310 · see citing works
Davies, D. M., de Vries, P. J., Johnson, S. R., McCartney, D. L., Cox, J. A., Serra, A. L., Watson, P., Howe, C. J., Doyle, T., Pointon, K. S., et al. (2011) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-11-0445 · Cited by 305 · see citing works
Self-citationTyburczy, M. E., Dies, K. A., Glass, J., Camposano, S. E., Chekaluk, Y. I., Thorner, A. R., Lin, L., Krueger, D. A., Franz, D. N., Thiele, E. A., et al. (2015) · PLoS Genetics · doi:10.1371/journal.pgen.1005637 · Cited by 299 · see citing works
Management of epilepsy associated with tuberous sclerosis complex (TSC): Clinical recommendations
Curatolo, P., Jóźwiak, S., & Nabbout, R. (2012) · European Journal of Paediatric Neurology · doi:10.1016/j.ejpn.2012.05.004 · Cited by 259 · see citing works
Self-citationBehavioral and Cognitive Aspects of Tuberous Sclerosis Complex
Prather, P. A., & de Vries, P. J. (2004) · Journal of Child Neurology · doi:10.1177/08830738040190090601 · Cited by 235 · see citing works
Roth, J., Roach, E. S., Bartels, U. K., Jóźwiak, S., Koenig, M. K., Weiner, H. L., Franz, D. N., & Wang, H. Z. (2013) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2013.08.017 · Cited by 208 · see citing works
Franz, D. N., Белоусова, Е. Д., Sparagana, S. P., Bebin, E. M., Frost, M., Kuperman, R. A., Witt, O., Kohrman, M. H., Flamini, J. R., Wu, J. Y., et al. (2014) · The Lancet Oncology · doi:10.1016/s1470-2045(14)70489-9 · Cited by 179 · see citing works
Self-citationClinical and Genotype Studies of Cardiac Tumors in 154 Patients With Tuberous Sclerosis Complex
Jóźwiak, S., Kotulska, K., Kasprzyk‐Obara, J., Domańska‐Pakieła, D., Tomyn-Drabik, M., Roberts, P. S., & Kwiatkowski, D. J. (2006) · PEDIATRICS · doi:10.1542/peds.2006-0504 · Cited by 171 · see citing works
Lymphangioleiomyomatosis Screening in Women With Tuberous Sclerosis
Cudzilo, C. J., Szczesniak, R. D., Brody, A. S., Rattan, M. S., Krueger, D. A., Bissler, J. J., Franz, D. N., McCormack, F. X., & Young, L. R. (2013) · CHEST Journal · doi:10.1378/chest.12-2813 · Cited by 164 · see citing works
Tuberous Sclerosis Complex Renal Disease
Dixon, B. P., Hulbert, J. C., & Bissler, J. J. (2010) · Nephron Experimental Nephrology · doi:10.1159/000320891 · Cited by 162 · see citing works
Pilot Validation of the Tuberous Sclerosis-Associated Neuropsychiatric Disorders (TAND) Checklist
Leclezio, L., Jansen, A., Whittemore, V., & de Vries, P. J. (2014) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2014.10.006 · Cited by 158 · see citing works
Self-citationBissler, J. J., Kingswood, J. C., Radzikowska, E., Zonnenberg, B. A., Frost, M., Белоусова, Е. Д., Sauter, M., Nonomura, N., Brakemeier, S., de Vries, P. J., et al. (2015) · Nephrology Dialysis Transplantation · doi:10.1093/ndt/gfv249 · Cited by 157 · see citing works
Self-citationThe psychopathologies of children and adolescents with tuberous sclerosis complex (TSC)
de Vries, P. J., Hunt, A. L., & Bolton, P. (2007) · European Child & Adolescent Psychiatry · doi:10.1007/s00787-006-0570-3 · Cited by 152 · see citing works
Jóźwiak, S., Nabbout, R., & Curatolo, P. (2013) · European Journal of Paediatric Neurology · doi:10.1016/j.ejpn.2012.12.008 · Cited by 124 · see citing works
Self-citationTuberous sclerosis complex: tumors and tumorigenesis
Borkowska, J., Schwartz, R. A., Kotulska, K., & Jóźwiak, S. (2010) · International Journal of Dermatology · doi:10.1111/j.1365-4632.2010.04727.x · Cited by 119 · see citing works
mTOR Inhibitors in Tuberous Sclerosis Complex
Curatolo, P., & Moavero, R. (2012) · Current Neuropharmacology · doi:10.2174/157015912804143595 · Cited by 114 · see citing works
Self-citationRapamycin Reduces Seizure Frequency in Tuberous Sclerosis Complex
Muncy, J. L., Butler, I. J., & Koenig, M. K. (2009) · Journal of Child Neurology · doi:10.1177/0883073808324535 · Cited by 112 · see citing works
Kingswood, J. C., Bruzzi, P., Curatolo, P., de Vries, P. J., Fladrowski, C., Hertzberg, C., Jansen, A., Jóźwiak, S., Nabbout, R., Sauter, M., et al. (2014) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-014-0182-9 · Cited by 88 · see citing works
Self-citationSurgical Treatment of Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Complex Patients
Kotulska, K., Borkowska, J., Roszkowski, M., Mandera, M., Daszkiewicz, P., Drabik, K., Jurkiewicz, E., Larysz‐Brysz, M., Nowak, K., Grajkowska, W., et al. (2013) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2013.12.004 · Cited by 75 · see citing works
Management of Renal Angiomyolipoma:Analysis of 15 Cases
Kessler, O., GILLON, G., Neuman, M., Engelstein, D., WINKLER, H. Z., & Baniel, J. (1998) · European Urology · doi:10.1159/000019658 · Cited by 69 · see citing works
Symptomatic Renal Angiomyolipoma: Report of 8 Cases, 2 with Spontaneous Rupture
Mouded, I. M., Tolia, B. M., Bernie, J. E., & Newman, H. R. (1978) · The Journal of Urology · doi:10.1016/s0022-5347(17)57589-8 · Cited by 68 · see citing works
Perek‐Polnik, M., Jóźwiak, S., Jurkiewicz, E., Perek, D., & Kotulska, K. (2011) · European Journal of Paediatric Neurology · doi:10.1016/j.ejpn.2011.09.006 · Cited by 67 · see citing works
Emerging Treatments in the Management of Tuberous Sclerosis Complex
Kohrman, M. H. (2012) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2012.02.015 · Cited by 66 · see citing works
Advances in the treatment of tuberous sclerosis complex
Leclezio, L., & de Vries, P. J. (2015) · Current Opinion in Psychiatry · doi:10.1097/yco.0000000000000136 · Cited by 50 · see citing works
Fallah, A., & Wang, S. (2014) · Neuropsychiatric Disease and Treatment · doi:10.2147/ndt.s51789 · Cited by 36 · see citing works
Successful everolimus therapy for SEGA in pediatric patients with tuberous sclerosis complex
Cappellano, A. M., Senerchia, A. A., Adolfo, F., Paiva, P. M., Pinho, R. S., Covic, A. N., Cavalheiro, S., & Saba, N. (2013) · Child s Nervous System · doi:10.1007/s00381-013-2170-0 · Cited by 33 · see citing works
mTOR Inhibitors in Tuberous Sclerosis Complex
Curatolo, P., & Moavero, R. (2012) · Current Neuropharmacology · doi:10.2174/1570159x11209040404 · Cited by 12 · see citing works
Self-citationKingswood, J. C., Demuth, D., Nasuti, P., Lucchese, L., Gray, E., & Magestro, M. (2014) · European Urology Supplements · doi:10.1016/s1569-9056(14)60313-4 · Cited by 8 · see citing works
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Northrup, H., Aronow, M. E., Bebin, E. M., Bissler, J. J., Darling, T. N., de Vries, P. J., Frost, M., Fuchs, Z., Gosnell, E. S., Gupta, N., et al. (2021) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2021.07.011 · Cited by 770 · see citing works
Self-citationThiele, E. A., Bebin, E. M., Bhathal, H., Jansen, F. E., Kotulska, K., Lawson, J. A., O'Callaghan, F. J., Wong, M., Sahebkar, F., Checketts, D., et al. (2021) · JAMA Neurology · doi:10.1001/jamaneurol.2020.4607 · Cited by 281 · see citing works
Self-citationEpilepsy in tuberous sclerosis complex: Findings from the TOSCA Study
Nabbout, R., Belousova, E., Benedik, M. P., Carter, T., Cottin, V., Curatolo, P., Dahlin, M. G., ́Amato, L. D., d’Augères, G. B., de Vries, P. J., et al. (2018) · Epilepsia Open · doi:10.1002/epi4.12286 · Cited by 249 · see citing works
Self-citationManagement of epilepsy associated with tuberous sclerosis complex: Updated clinical recommendations
Curatolo, P., Nabbout, R., Lagae, L., Aronica, E., Ferreira, J. C., Feucht, M., Hertzberg, C., Jansen, A. C., Jansen, F., Kotulska, K., et al. (2018) · European Journal of Paediatric Neurology · doi:10.1016/j.ejpn.2018.05.006 · Cited by 190 · see citing works
Self-citationTSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study
de Vries, P. J., Belousova, E., Benedik, M. P., Carter, T., Cottin, V., Curatolo, P., Dahlin, M. G., D’Amato, L., d’Augères, G. B., Ferreira, J. C., et al. (2018) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-018-0901-8 · Cited by 190 · see citing works
Self-citationEbrahimi‐Fakhari, D., Mann, L. L., Poryo, M., Graf, N. M., von Kries, R., Heinrich, B., Ebrahimi‐Fakhari, D., Flotats‐Bastardas, M., Gortner, L., Zemlin, M., et al. (2018) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-018-0870-y · Cited by 180 · see citing works
Tuberous sclerosis complex: review based on new diagnostic criteria
Portocarrero, L. K. L., Quental, K. N., Samorano, L. P., de Oliveira, Z. N. P., & Machado, M. C. R. (2018) · Anais Brasileiros de Dermatologia · doi:10.1590/abd1806-4841.20186972 · Cited by 150 · see citing works
A systematic review on the burden of illness in individuals with tuberous sclerosis complex (TSC)
Zöllner, J. P., Franz, D. N., Hertzberg, C., Nabbout, R., Rosenow, F., Sauter, M., Schubert‐Bast, S., Wiemer‐Kruel, A., & Strzelczyk, A. (2020) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-019-1258-3 · Cited by 130 · see citing works
Self-citationSaffari, A., Brösse, I., Wiemer‐Kruel, A., Wilken, B., Kreuzaler, P., Hahn, A., Bernhard, M. K., van Tilburg, C. M., Hoffmann, G. F., Gorenflo, M., et al. (2019) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-019-1077-6 · Cited by 128 · see citing works
A clinical update on tuberous sclerosis complex‐associated neuropsychiatric disorders (TAND)
de Vries, P. J., Wilde, L., de Vries, M. C., Moavero, R., Pearson, D. A., & Curatolo, P. (2018) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31637 · Cited by 123 · see citing works
Self-citationCuratolo, P., Specchio, N., & Aronica, E. (2022) · The Lancet Neurology · doi:10.1016/s1474-4422(22)00213-7 · Cited by 119 · see citing works
Self-citationKingswood, J. C., Belousova, E., Benedik, M. P., Carter, T., Cottin, V., Curatolo, P., Dahlin, M. G., ́Amato, L. D., d’Augères, G. B., de Vries, P. J., et al. (2018) · Nephrology Dialysis Transplantation · doi:10.1093/ndt/gfy063 · Cited by 109 · see citing works
Self-citationThiele, E. A., Bebin, E. M., Filloux, F. M., Kwan, P., Loftus, R., Sahebkar, F., Sparagana, S. P., & Wheless, J. W. (2021) · Epilepsia · doi:10.1111/epi.17150 · Cited by 111 · see citing works
Mühlebner, A., Bongaarts, A., Sarnat, H. B., Scholl, T. O., & Aronica, E. (2019) · Journal of Anatomy · doi:10.1111/joa.12956 · Cited by 96 · see citing works
Krueger, D. A., Capal, J. K., Curatolo, P., Devinsky, O., Ess, K. C., Tzadok, M., Koenig, M. K., Narayanan, V., Ramos, F. J., Jóźwiak, S., et al. (2018) · European Journal of Paediatric Neurology · doi:10.1016/j.ejpn.2018.06.007 · Cited by 73 · see citing works
Self-citationRenal manifestation of tuberous sclerosis complex
Bissler, J. J., & Kingswood, J. C. (2018) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31654 · Cited by 73 · see citing works
Self-citationThe Neurodevelopmental Pathogenesis of Tuberous Sclerosis Complex (TSC)
Feliciano, D. M. (2020) · Frontiers in Neuroanatomy · doi:10.3389/fnana.2020.00039 · Cited by 69 · see citing works
Auvin, S., Bissler, J. J., Cottin, V., Fujimoto, A., Hofbauer, G. F. L., Jansen, A., Jóźwiak, S., Kerecuk, L., Kingswood, J. C., Moavero, R., et al. (2019) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-019-1072-y · Cited by 65 · see citing works
Self-citationde Vries, P. J., Heunis, T.-M., Vanclooster, S., Chambers, N. J., Bissell, S., Byars, A. W., Flinn, J., Gipson, T., van Eeghen, A. M., Waltereit, R., et al. (2023) · Journal of Neurodevelopmental Disorders · doi:10.1186/s11689-023-09500-1 · Cited by 57 · see citing works
Self-citationThe Risks of Renal Angiomyolipoma: Reviewing the Evidence
Seyam, R. M., Alkhudair, W. K., Kattan, S. A., Alotaibi, M. F., Alzahrani, H. M., & Altaweel, W. M. (2017) · Journal of Kidney Cancer and VHL · doi:10.15586/jkcvhl.2017.97 · Cited by 56 · see citing works
van Andel, D. M., Sprengers, J. J., Oranje, B., Scheepers, F. E., Jansen, F. E., & Bruining, H. (2020) · Molecular Autism · doi:10.1186/s13229-020-00335-4 · Cited by 55 · see citing works
Learning from registries in pulmonary arterial hypertension: pitfalls and recommendations
Swinnen, K., Quarck, R. A., Godinas, L., Belge, C., & Delcroix, M. (2019) · European Respiratory Review · doi:10.1183/16000617.0050-2019 · Cited by 55 · see citing works
Clinical Characteristics of Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Complex
Jansen, A., Belousova, E., Benedik, M. P., Carter, T., Cottin, V., Curatolo, P., Dahlin, M. G., D’Amato, L., d’Augères, G. B., de Vries, P. J., et al. (2019) · Frontiers in Neurology · doi:10.3389/fneur.2019.00705 · Cited by 54 · see citing works
Self-citationSchubert‐Bast, S., & Strzelczyk, A. (2021) · Therapeutic Advances in Neurological Disorders · doi:10.1177/17562864211031100 · Cited by 50 · see citing works
Wu, J. Y., Cock, H. R., Devinsky, O., Joshi, C., Miller, I., Roberts, C. M., Sánchez-Carpintero, R., Checketts, D., & Sahebkar, F. (2022) · Epilepsia · doi:10.1111/epi.17199 · Cited by 51 · see citing works
Predictors of Drug-Resistant Epilepsy in Tuberous Sclerosis Complex
Jeong, A., Nakagawa, J. A., & Wong, M. L. (2017) · Journal of Child Neurology · doi:10.1177/0883073817737446 · Cited by 49 · see citing works
Burden of Illness and Quality of Life in Tuberous Sclerosis Complex: Findings From the TOSCA Study
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Self-citationSauter, M., Belousova, E., Benedik, M. P., Carter, T., Cottin, V., Curatolo, P., Dahlin, M. G., D’Amato, L., d’Augères, G. B., de Vries, P. J., et al. (2021) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-021-01917-y · Cited by 43 · see citing works
Self-citationVanclooster, S., Bissell, S., van Eeghen, A. M., Chambers, N. J., Waele, L. D., Byars, A. W., Capal, J. K., Cukier, S., Davis, P. E., Flinn, J., et al. (2022) · Journal of Neurodevelopmental Disorders · doi:10.1186/s11689-022-09423-3 · Cited by 43 · see citing works
Self-citationWelin, K.-O., Carlqvist, P., Svensson, A. E., Althin, R., Eklund, E. A., & Rask, O. (2017) · Seizure · doi:10.1016/j.seizure.2017.10.005 · Cited by 40 · see citing works
Neuroimaging in tuberous sclerosis complex
Russo, C., Nastro, A., Cicala, D., Liso, M. D., Covelli, E. M., & Cinalli, G. (2020) · Child s Nervous System · doi:10.1007/s00381-020-04705-4 · Cited by 40 · see citing works
Resective surgery in tuberous Sclerosis complex, from Penfield to 2018: A critical review
Ostrowsky‐Coste, K., Neal, A. J., Guénot, M., Ryvlin, P., Bouvard, S., Bourdillon, P., Jung, J., Catenoix, H., Montavont, A., Isnard, J., et al. (2019) · Revue Neurologique · doi:10.1016/j.neurol.2018.11.002 · Cited by 38 · see citing works
The coding and non-coding transcriptional landscape of subependymal giant cell astrocytomas
Bongaarts, A., van Scheppingen, J., Korotkov, A., Mijnsbergen, C., Anink, J. J., Jansen, F. E., Spliet, W. G. M., den Dunnen, W. F. A., Gruber, V., Scholl, T. O., et al. (2019) · Brain · doi:10.1093/brain/awz370 · Cited by 37 · see citing works
Self-citation(2020) · PubMed Central · doi:10.3389/fneur.2020.00603 · Cited by 36 · see citing works
Self-citationCockerell, I., Christensen, J., Hoei‐Hansen, C. E., Holst, L., Frederiksen, M. G., Issa-Epe, A. I., Nedregaard, B., Solhoff, R., Heimdal, K., Landmark, C. J., et al. (2023) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-023-02982-1 · Cited by 35 · see citing works
Nabbout, R., Belousova, E., Benedik, M. P., Carter, T., Cottin, V., Curatolo, P., Dahlin, M. G., D’Amato, L., d’Augères, G. B., de Vries, P. J., et al. (2021) · Frontiers in Neurology · doi:10.3389/fneur.2021.697467 · Cited by 34 · see citing works
Self-citationJansen, A., Belousova, E., Benedik, M. P., Carter, T., Cottin, V., Curatolo, P., D’Amato, L., d’Augères, G. B., de Vries, P. J., Ferreira, J. C., et al. (2019) · Frontiers in Neurology · doi:10.3389/fneur.2019.00821 · Cited by 33 · see citing works
Self-citationTuberous sclerosis complex for the pulmonologist
Rebaine, Y., Nasser, M., Girerd, B., Leroux, C., & Cottin, V. (2021) · European Respiratory Review · doi:10.1183/16000617.0348-2020 · Cited by 34 · see citing works
Self-citationRidder, J. D., Lavanga, M., Verhelle, B., Vervisch, J., Lemmens, K., Kotulska, K., Moavero, R., Curatolo, P., Weschke, B., Riney, K., et al. (2020) · Frontiers in Neurology · doi:10.3389/fneur.2020.582891 · Cited by 32 · see citing works
Self-citationDeep learning in rare disease. Detection of tubers in tuberous sclerosis complex
Fernández, I. S., Yang, E., Calvachi, P., Amengual‐Gual, M., Wu, J. Y., Krueger, D. A., Northrup, H., Bebin, M. E., Şahin, M., Yu, K., et al. (2020) · PLoS ONE · doi:10.1371/journal.pone.0232376 · Cited by 32 · see citing works
The natural history of subependymal giant cell astrocytomas in tuberous sclerosis complex: a review
Chan, D., Calder, T., Lawson, J. A., Mowat, D. R., & Kennedy, S. (2017) · Reviews in the Neurosciences · doi:10.1515/revneuro-2017-0027 · Cited by 30 · see citing works
Self-citationEpilepsy, impaired functioning, and quality of life in patients with tuberous sclerosis complex
Vergeer, M., de Ranitz‐Greven, W. L., Neary, M. P., Ionescu‐Ittu, R., Émond, B., Duh, M. S., Jansen, F. E., & Zonnenberg, B. A. (2019) · Epilepsia Open · doi:10.1002/epi4.12365 · Cited by 30 · see citing works
Self-citationEpilepsy treatment patterns among patients with tuberous sclerosis complex
Song, J., Swallow, E., Said, Q., Peeples, M., Meiselbach, M. K., Signorovitch, J., Kohrman, M. H., Korf, B. R., Krueger, D. A., Wong, M. L., et al. (2018) · Journal of the Neurological Sciences · doi:10.1016/j.jns.2018.06.011 · Cited by 27 · see citing works
Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting
Ye, Z., Lin, S., Zhao, X., Bennett, M. F., Brown, N. J., Wallis, M., Gao, X., Sun, L., Wu, J., Vedururu, R., et al. (2022) · Human Mutation · doi:10.1002/humu.24454 · Cited by 27 · see citing works
Gao, C., Zabielska, B. A., Jiao, F., Mei, D., Wang, X., Kotulska, K., & Jóźwiak, S. (2023) · Journal of Clinical Medicine · doi:10.3390/jcm12030956 · Cited by 27 · see citing works
Jesmanas, S., Norvainytė, K., Gleiznienė, R., Šimoliūnienė, R., & Endzinienė, M. (2017) · Brain and Development · doi:10.1016/j.braindev.2017.11.010 · Cited by 26 · see citing works
Chu, W. C., Chiang, L. L.-W., Chan, D. C.-C., Wong, W. H. S., & Chan, G. (2020) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-020-01517-2 · Cited by 26 · see citing works
Serra, I., Scheldeman, C., Bazelot, M., Whalley, B. J., Dallas, M. L., de Witte, P. A. M., & Williams, C. M. (2019) · Behavioural Brain Research · doi:10.1016/j.bbr.2019.01.040 · Cited by 25 · see citing works
Cervi, F., Saletti, V., Turner, K., Peron, A., Bulgheroni, S., Taddei, M., Briola, F. L., Canevini, M. P., & Vignoli, A. (2020) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-020-01488-4 · Cited by 24 · see citing works
Tuberous sclerosis complex: Diagnostic features, surveillance, and therapeutic strategies
Arredondo, K. H., Jülich, K., & Roach, E. S. (2024) · Seminars in Pediatric Neurology · doi:10.1016/j.spen.2024.101155 · Cited by 22 · see citing works
Bongaarts, A., de Jong, J. M., Broekaart, D. W. M., van Scheppingen, J., Anink, J. J., Mijnsbergen, C., Jansen, F. E., Spliet, W. G. M., den Dunnen, W. F. A., Gruber, V., et al. (2020) · Journal of Neuropathology & Experimental Neurology · doi:10.1093/jnen/nlaa040 · Cited by 21 · see citing works
Self-citationTian, X., Glass, J., Kwiatkowski, D. J., Towbin, A. J., Li, Y., Sund, K. L., Krueger, D. A., Franz, D. N., McCormack, F. X., & Gupta, N. (2020) · Annals of the American Thoracic Society · doi:10.1513/annalsats.202008-911oc · Cited by 21 · see citing works
Hulshof, H. M., Beňová, B., Kršek, P., Kynčl, M., Lequin, M. H., Bělohlávková, A., Ježdík, P., Braun, K. P. J., & Jansen, F. E. (2021) · Epilepsia Open · doi:10.1002/epi4.12529 · Cited by 19 · see citing works
Sadowski, K., Sijko, K., Domańska‐Pakieła, D., Borkowska, J., Chmielewski, D., Ulatowska, A., Jóźwiak, S., & Kotulska, K. (2022) · Frontiers in Neurology · doi:10.3389/fneur.2022.704978 · Cited by 20 · see citing works
Jurca, C. M., Kozma, K., Petcheși, C. D., Zaha, D. C., Magyar, I., Munteanu, M. A., Faur, L., Jurca, A. A., Bembea, D., Severin, E. M., et al. (2023) · Genes · doi:10.3390/genes14020433 · Cited by 20 · see citing works
Language predictors of autism spectrum disorder in young children with tuberous sclerosis complex
Schoenberger, A., Capal, J. K., Ondracek, A., Horn, P. S., Murray, D. S., Byars, A. W., Pearson, D. A., Williams, M. E., Bebin, M., Northrup, H., et al. (2019) · Epilepsy & Behavior · doi:10.1016/j.yebeh.2019.106844 · Cited by 20 · see citing works
Genotype and Phenotype Landscape of 283 Japanese Patients with Tuberous Sclerosis Complex
Togi, S., Ura, H., Hatanaka, H., & Niida, Y. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms231911175 · Cited by 19 · see citing works
Skrobanski, H., Vyas, K., Bowditch, S., Hubig, L., Dziadulewicz, E., Fish, L., Takhar, P., & Lo, S. H. (2023) · PharmacoEconomics - Open · doi:10.1007/s41669-023-00387-1 · Cited by 19 · see citing works
Lymphangioleiomyomatosis: A Review
Bouanzoul, M. A., & Rosen, Y. (2024) · Archives of Pathology & Laboratory Medicine · doi:10.5858/arpa.2024-0206-ra · Cited by 19 · see citing works
Is It Feasible to Identify Natural Clusters of TSC-Associated Neuropsychiatric Disorders (TAND)?
Leclezio, L., Gardner‐Lubbe, S., & de Vries, P. J. (2018) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2017.12.006 · Cited by 19 · see citing works
Liu, A. J., Staffaroni, A. M., Rojas-Martinez, J. C., Olney, N. T., Alquezar-Burillo, C., Ljubenkov, P. A., La Joie, R., Fong, J. C., Taylor, J., Karydas, A., et al. (2020) · JAMA Neurology · doi:10.1001/jamaneurol.2019.4284 · Cited by 18 · see citing works
“Mathematic 10/15 (67) 3/12 (25) 2/16 (13)”
Tuberous Sclerosis Complex: Genetic counselling and perinatal follow-up
Touraine, R. L., Hauet, Q., Harzallah, I., & Baruteau, A. (2022) · Archives de Pédiatrie · doi:10.1016/s0929-693x(22)00283-4 · Cited by 18 · see citing works
Self-citationMcDonald, A., Goodwin, J., Roberts, S., Fish, L. R., Vaughan, B. S., Cooper, A., & Cadwgan, J. (2019) · Journal of Intellectual Disability Research · doi:10.1111/jir.12609 · Cited by 18 · see citing works
Rojas, M. L. R.-F., Feucht, M., Macaya, A., Wilken, B., Hahn, A., Maamari, R., Hirschberg, Y., Ridolfi, A., & Kingswood, J. C. (2022) · Frontiers in Pharmacology · doi:10.3389/fphar.2022.802334 · Cited by 17 · see citing works
Self-citationFrench recommendations for the diagnosis and management of lymphangioleiomyomatosis
Cottin, V., Blanchard, É., Kerjouan, M., Lazor, R., Reynaud‐Gaubert, M., Taillé, C., Uzunhan, Y., Wémeau-Stervinou, L., Andréjak, C., Baud, D., et al. (2023) · Respiratory Medicine and Research · doi:10.1016/j.resmer.2023.101010 · Cited by 17 · see citing works
Self-citationIs tuberous sclerosis complex-associated autism a preventable and treatable disorder?
Curatolo, P., Scheper, M., Gialloreti, L. E., Specchio, N., & Aronica, E. (2023) · World Journal of Pediatrics · doi:10.1007/s12519-023-00762-2 · Cited by 17 · see citing works
Self-citationEbrahimi‐Fakhari, D., Zemlin, M., Sauer, H., Poryo, M., Graf, N. M., & Meyer, S. (2018) · Klinische Pädiatrie · doi:10.1055/a-0586-4365 · Cited by 17 · see citing works
Alperin, S., Krueger, D. A., Franz, D. N., Agricola, K. D., Stires, G., Horn, P. S., & Capal, J. K. (2021) · Journal of Neurodevelopmental Disorders · doi:10.1186/s11689-021-09408-8 · Cited by 17 · see citing works
Recent advances in the pathobiology and clinical management of lymphangioleiomyomatosis
Harari, S. A., Spagnolo, P., Cocconcelli, E., Luisi, F., & Cottin, V. (2018) · Current Opinion in Pulmonary Medicine · doi:10.1097/mcp.0000000000000502 · Cited by 17 · see citing works
Self-citationGenotype/phenotype correlation in 123 Chinese patients with Tuberous Sclerosis Complex
Ng, S. Y., Luk, H., Hau, E. W. L., Cheng, S. S. W., Yu, K. P., Ho, S., Mok, M. T., & Lo, I. F. M. (2022) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2022.104573 · Cited by 16 · see citing works
Prezioso, G., Chiarelli, F., & Matricardi, S. (2023) · Expert Review of Neurotherapeutics · doi:10.1080/14737175.2023.2216385 · Cited by 17 · see citing works
The concept of disease modification
Cross, J. H., & Lagae, L. G. (2019) · European Journal of Paediatric Neurology · doi:10.1016/j.ejpn.2019.12.005 · Cited by 15 · see citing works
Gaillard, A.-L., Crombé, A., Jecko, V., Bessou, P., Havez, M., Pedespan, J., Van‐Gils, J., & Chateil, J. (2020) · Pediatric Radiology · doi:10.1007/s00247-020-04707-z · Cited by 15 · see citing works
Hemimegalencephaly and tuberous sclerosis complex: A rare yet challenging association
Sidira, C., Vargiami, E., Dragoumi, P., & Zafeiriou, D. (2020) · European Journal of Paediatric Neurology · doi:10.1016/j.ejpn.2020.12.007 · Cited by 15 · see citing works
Scheper, M., Romagnolo, A., Besharat, Z. M., Iyer, A. M., Moavero, R., Hertzberg, C., Weschke, B., Riney, K., Feucht, M., Scholl, T. O., et al. (2022) · Biomedicines · doi:10.3390/biomedicines10081838 · Cited by 15 · see citing works
Self-citationFohlen, M., Harzallah, I., Polivka, M., Giuliano, F., Pons, L., Streichenberger, N., Dorfmüller, G., & Touraine, R. L. (2020) · Child s Nervous System · doi:10.1007/s00381-020-04551-4 · Cited by 14 · see citing works
Self-citationEconomic burden associated with tuberous sclerosis complex in patients with epilepsy
Betts, K. A., Stockl, K. M., Yin, L., Hollenack, K. A., Wang, M., & Yang, X. (2020) · Epilepsy & Behavior · doi:10.1016/j.yebeh.2020.107494 · Cited by 14 · see citing works
Pharmacotherapy for Seizures in Tuberous Sclerosis Complex
Nabbout, R., Kuchenbuch, M., Chiron, C., & Curatolo, P. (2021) · CNS Drugs · doi:10.1007/s40263-021-00835-8 · Cited by 14 · see citing works
Self-citationUpdated Genotype-Phenotype Correlations in TSC
Curatolo, P., Trivisano, M., & Specchio, N. (2023) · Seminars in Pediatric Neurology · doi:10.1016/j.spen.2023.101086 · Cited by 13 · see citing works
Self-citationMammadova, D., Vecko, J., Hofmann, M., Schüssler, S. C., Deiters, L., Canda, A., Wieland, A., Gollwitzer, S., Hamer, H. M., & Trollmann, R. (2023) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-023-02959-0 · Cited by 13 · see citing works
Les cancers du rein héréditaires vus par le pathologiste en 2020
Verkarre, V., Morini, A., Denize, T., Ferlicot, S., & Richard, S. (2020) · Annales de Pathologie · doi:10.1016/j.annpat.2020.02.022 · Cited by 13 · see citing works
Nierenzysten und zystische Nierenerkrankungen bei Kindern (AWMF S2k-Leitlinie)
Gimpel, C., Bergmann, C., Brinkert, F., Cetiner, M., Gembruch, U., Haffner, D., Kemper, M. J., König, J. C., Liebau, M. C., Maier, R. F., et al. (2020) · Klinische Pädiatrie · doi:10.1055/a-1179-0728 · Cited by 13 · see citing works
Pfirmann, P., Aupy, J., Jambon, E., Idier, L., Prezelin‐Reydit, M., Fermis, M., Devillard, R., Grenier, N., Combe, C., & Rigothier, C. (2020) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2019-106607 · Cited by 12 · see citing works
Sclérose tubéreuse de Bourneville : mise au point
Pfirmann, P., Combe, C., & Rigothier, C. (2021) · La Revue de Médecine Interne · doi:10.1016/j.revmed.2021.03.003 · Cited by 14 · see citing works
Patient and Caregiver Health State Utilities in Tuberous Sclerosis Complex
Lo, S. H., Marshall, J. D., Skrobanski, H., & Lloyd, A. J. (2021) · PharmacoEconomics - Open · doi:10.1007/s41669-021-00296-1 · Cited by 12 · see citing works
Becker, B., & Strowd, R. E., III (2019) · Dermatologic Clinics · doi:10.1016/j.det.2019.05.015 · Cited by 12 · see citing works
Caylor, R. C., Grote, L. E., Thiffault, I., Farrow, E., Willig, L. K., Soden, S. E., Amudhavalli, S. M., Nopper, A. J., Horii, K. A., Fleming, E., et al. (2018) · Neurogenetics · doi:10.1007/s10048-018-0551-y · Cited by 12 · see citing works
Winden, K. D., Bebin, E. M., Jeste, S., Krueger, D. A., Paul, E., & Sahin, M. (2026) · Nature Reviews Disease Primers · doi:10.1038/s41572-026-00688-9 · Cited by 11 · see citing works
mTOR pathway diseases: challenges and opportunities from bench to bedside and the mTOR node
Ritter, L. M., Annear, N. M. P., Baple, E., Ben-Chaabane, L. Y., Bodi, I., Brosson, L., Cadwgan, J., Coslett, B., Crosby, A. H., Davies, D., et al. (2025) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-025-03740-1 · Cited by 10 · see citing works
Self-citationSasaki, T., Uda, T., Kuki, I., Kunihiro, N., Okazaki, S., Niida, Y., & Goto, T. (2021) · Child s Nervous System · doi:10.1007/s00381-021-05399-y · Cited by 11 · see citing works
Prevalence of thoracoabdominal imaging findings in tuberous sclerosis complex
Ritter, D. M., Fessler, B. K., Ebrahimi‐Fakhari, D., Wei, J. J., Franz, D. N., Krueger, D. A., Trout, A. T., & Towbin, A. J. (2022) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-022-02277-x · Cited by 11 · see citing works
Fujimoto, A., Okanishi, T., Imai, S., Ogai, M., Fukunaga, A., Nakamura, H., Sato, K., Obana, A., Masui, T., Arai, Y., et al. (2018) · Scientific Reports · doi:10.1038/s41598-018-35168-y · Cited by 11 · see citing works
The paradox of autophagy in Tuberous Sclerosis Complex
Reis, L. B., Filippi‐Chiela, E. C., Ashton‐Prolla, P., Visioli, F., & Rosset, C. (2021) · Genetics and Molecular Biology · doi:10.1590/1678-4685-gmb-2020-0014 · Cited by 11 · see citing works
Shrot, S., Lawson, P., Shlomovitz, O., Hoffmann, C., Shrot, A., Ben‐Zeev, B., & Tzadok, M. (2021) · Neuroradiology · doi:10.1007/s00234-021-02789-6 · Cited by 11 · see citing works
Mowrey, K., Ashfaq, M., Pearson, D. A., Hashmi, S. S., Roberds, S. L., Farach, L. S., & Northrup, H. (2018) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2018.10.011 · Cited by 10 · see citing works
Litwa, K. (2022) · Frontiers in Genetics · doi:10.3389/fgene.2022.997461 · Cited by 10 · see citing works
Pereira, C. C. D. S., Dantas, F. D. G., & de Manreza, M. L. G. (2022) · Arquivos de Neuro-Psiquiatria · doi:10.1055/s-0042-1758456 · Cited by 12 · see citing works
Nguyen, T. B., Lac, Q., Abdi, L., Banerjee, D., Deng, Y., & Zhang, Y. (2023) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2022.1071243 · Cited by 10 · see citing works
Tsc2 coordinates neuroprogenitor differentiation
Riley, V. A., Shankar, V., Holmberg, J. C., Sokolov, A. M., Neckles, V. N., Williams, K., Lyman, R. A., Mackay, T. F. C., & Feliciano, D. M. (2023) · iScience · doi:10.1016/j.isci.2023.108442 · Cited by 9 · see citing works
The Evolving Landscape of Therapeutics for Epilepsy in Tuberous Sclerosis Complex
Vitale, G., Terrone, G., Vitale, S., Vitulli, F., Aiello, S., Bravaccio, C., Pisano, S., Bove, I., Rizzo, F. M., Seetahal-Maraj, P., et al. (2023) · Biomedicines · doi:10.3390/biomedicines11123241 · Cited by 9 · see citing works
- Authors
- on behalf of TOSCA consortium and TOSCA investigators, Kingswood, J. C., d’Augères, G. B., Belousova, E., Ferreira, J. C., Carter, T., Castellana, R., Cottin, V., Curatolo, P., Dahlin, M., de Vries, P. J., Feucht, M., Fladrowski, C., Gislimberti, G., Hertzberg, C., Jozwiak, S., Lawson, J. A., Macaya, A., Nabbout, R., O’Callaghan, F., Benedik, M. P., Qin, J., Marques, R., Sander, V., Sauter, M., Takahashi, Y., Touraine, R., Youroukos, S., Zonnenberg, B., & Jansen, A. C.
- Affiliations
- Royal Sussex County Hospital (GB)
- Hospital de Egas Moniz (PT)
- Tuberous Sclerosis Association (GB)
- Novartis (Spain) (ES)
- Lyon 1 Université (FR)
- Policlinico Tor Vergata (IT)
- Karolinska University Hospital (SE)
- Novartis (Italy) (IT)
- Vivantes Klinikum (DE)
- Sydney Children's Hospital (AU)
- Vall d'Hebron Hospital Universitari (ES)
- Hôpital Necker-Enfants Malades (FR)
- Peking University People's Hospital (CN)
- National Epilepsy Center (JP)
- Hôpital Nord (FR)
- University Medical Center Utrecht (NL)
- Universitair Ziekenhuis Brussel (BE)
- Corresponding author
- Kingswood, John C.
- ORCID
- Kingswood, John C.
- d’Augères, Guillaume B.
- Ferreira, José C.
- Carter, Tom
- Cottin, Vincent
- Curatolo, Paolo
- Dahlin, Maria
- Feucht, Martha
- Fladrowski, Carla
- Hertzberg, Christoph
- Lawson, John A.
- Macaya, Alfons
- Nabbout, Rima
- Qin, Jiong
- Sauter, Matthias
- Takahashi, Yukitoshi
- Touraine, Renaud
- Zonnenberg, Bernard
- Jansen, Anna C.
- Venue
- Orphanet Journal of Rare Diseases
- Published
- 2017-01-05
- Volume
- 12
- Issue
- 1
- Pages
- 2-2
- ISSN
- 1750-1172 (ISSN-L)
- PMC
- PMC5217262
- OpenAlex
- W2569230786
- Cited by
- 267
- References
- 41
- Citations by year
- 2026: 21 · 2025: 37 · 2024: 25 · 2023: 25 · 2022: 32 · 2021: 46 · 2020: 35 · 2019: 16 · 2018: 17 · 2017: 12
- FWCI
- 16.19
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- cc-by
- Locations
- Orphanet Journal of Rare Diseases (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- LA Referencia (Red Federada de Repositorios Institucionales de Publicaciones Científicas) (publishedVersion, cc-by-nc-nd)
- Cineca Institutional Research Information System (Tor Vergata University) (submittedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Open University of Cape Town (University of Cape Town) (submittedVersion)
- RECERCAT (Consorci de Serveis Universitaris de Catalunya) (submittedVersion, cc-by-nc-nd)
- UNSWorks (University of New South Wales, Sydney, Australia) (submittedVersion, cc-by)
- VUBIR (Vrije Universiteit Brussel) (submittedVersion)
- Funders
- Novartis Pharma AG
- Topics
- Health Sciences › Medicine › Physiology › Tuberous Sclerosis Complex Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and rare skin diseases.
- Health Sciences › Medicine › Surgery › Vascular Malformations and Hemangiomas
- Keywords
- tuberous sclerosis complex, disease manifestations, natural history (disease), epilepsy, intellectual disability, subependymal giant cell astrocytoma, renal angiomyolipoma, cardiac rhabdomyoma, facial angiofibroma, cortical tubers, hypomelanotic macules, shagreen patch, lymphangioleiomyomatosis
- MeSH terms
- Adolescent, Adult, Aged, Awareness, Child, Child, Preschool, Epilepsy, Europe, Female, Humans, Infant, Infant, Newborn, Male, Middle Aged, Registries, Tuberous Sclerosis, Lymphangioleiomyomatosis, Angiomyolipoma, Young Adult
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