Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations

Autor: Hope Northrup, Mary E. Aronow, E. Martina Bebin, John Bissler, Thomas N. Darling, Petrus J. de Vries, Michael D. Frost, Zoë Fuchs, Elizabeth S. Gosnell, Nishant Gupta, Anna C. Jansen, Sergiusz Jóźwiak, J. Chris Kingswood, Timothy K. Knilans, Francis X. McCormack, Ashley Pounders, Steven L. Roberds, David F. Rodriguez-Buritica, Jonathan Roth, Julian R. Sampson, Steven Sparagana, Elizabeth Anne Thiele, Howard L. Weiner, James W. Wheless, Alexander J. Towbin, Darcy A. Krueger, Nicholas M.P. Annear, Ute Bartels, Moncef Berhouma, John J. Bissler, Klemens Budde, Anna Byars, Harry Chugani, Edward W. Cowen, Peter B. Crino, Paolo Curatolo, Petrus de Vries, Daniel F. Dilling, David W. Dunn, Rosmary Ekong, Kevin C. Ess, David N. Franz, Michael Frost, Zoë D.B. Fuchs, Elizabeth Gosnell, Lisa Guay-Woodford, Luciana Haddad, Anne Halbert, Adelaide A. Hebert, Elizabeth P. Henske, Gregory L. Holmes, Dena Hook, John Hulbert, Anna Jansen, Simon R. Johnson, Bryan King, J. Christopher Kingswood, Mary Kay Koenig, Bruce Korf, David J. Kwiatkowski, Joel Moss, David Mowat, Kate Mowrey, Rima Nabbout, Mark D. Nellist, Finbar O'Callaghan, Uday Patel, E. Steve Roach, David Rodriguez-Buritica, Robb Romp, Micaela Rozenberg, Stephen J. Ruoss, Mustafa Sahin, Julian Sampson, Joshua A. Samuels, Matthias Sauter, Catherine A. Smith, Keyomaurs Soltani, Shoba Srivastava, Clare Stuart, Joyce M.C. Teng, Elizabeth A. Thiele, Andrew Trout, Agnies van Eeghen, Stephanie Vanclooster, Henry Z. Wang, Mari Wataya-Kaneda, Patricia Witman, Tim Wright, Joyce Y. Wu, Lisa Young

Publikováno v: Pediatric Neurology, 123, 50-66. Elsevier Inc.
International Tuberous Sclerosis Complex Consensus Group 2021, ' Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations ', Pediatric Neurology, vol. 123, pp. 50-66 . https://doi.org/10.1016/j.pediatrneurol.2021.07.011

Background\ud Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disease affecting multiple body systems with wide variability in presentation. In 2013, Pediatric Neurology published articles outlining updated diagnostic criteria and r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8452fd0a03ea849d8963162c28fd10b8
https://pubmed.ncbi.nlm.nih.gov/34399110

Tuberous Sclerosis Complex Diagnostic Criteria Update: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference

Autor: Hope Northrup, Darcy A. Krueger, Steven Roberds, Katie Smith, Julian Sampson, Bruce Korf, David J. Kwiatkowski, David Mowat, Mark Nellist, Sue Povey, Petrus de Vries, Anna Byars, David Dunn, Kevin Ess, Dena Hook, Anna Jansen, Bryan King, Mustafa Sahin, Vicky Whittemore, Elizabeth Thiele, E. Martina Bebin, Harry T. Chugani, Peter Crino, Paolo Curatolo, Greg Holmes, Rima Nabbout, Finbar O'Callaghan, James Wheless, Joyce Wu, Thomas N. Darling, Edward W. Cowen, Elizabeth Gosnell, Adelaide Hebert, Greg Mlynarczyk, Keyomaurs Soltani, Joyce Teng, Mari Wataya-Kaneda, Patricia M. Witman, Chris Kingswood, John Bissler, Klemens Budde, John Hulbert, Lisa Guay-Woodford, Matthias Sauter, Bernard Zonneberg, Sergiusz Jóźwiak, Ute Bartels, Moncef Berhouma, David Neal Franz, Mary Kay Koenig, E. Steve Roach, Jonathan Roth, Henry Wang, Howard Weiner, Francis X. McCormack, Khalid Almoosa, Alan Brody, Charles Burger, Vincent Cottin, Geraldine Finlay, Jennifer Glass, Elizabeth Petri Henske, Simon Johnson, Robert Kotloff, David Lynch, Joel Moss, Karen Smith, Jay Rhu, Angelo Taveira Da Silva, Lisa R. Young, Timothy Knilans, Robert Hinton, Ashwin Prakash, Robb Romp, Arun D. Singh, Ashish DebRoy, Pei-Lung Chen, Steven Sparagana, Michael D. Frost

Publikováno v: Pediatric Neurology. 49:243-254

BACKGROUND: Tuberous sclerosis complex is highly variable in clinical presentation and findings. Disease manifestations continue to develop over the lifetime of an affected individual. Accurate diagnosis is fundamental to implementation of appropriat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12a26d4c528c59947541c14b538c321a
https://doi.org/10.1016/j.pediatrneurol.2013.08.001