作者
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
发表日期
2013/10/1
期刊
Pediatric neurology
卷号
49
期号
4
页码范围
243-254
出版商
Elsevier
简介
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 appropriate medical surveillance and treatment. Although significant advances have been made in the past 15 years in the understanding and treatment of tuberous sclerosis complex, current clinical diagnostic criteria have not been critically evaluated or updated since the last clinical consensus conference in 1998.
Methods
The 2012 International Tuberous Sclerosis Complex Consensus Group, comprising 79 specialists from 14 countries, was organized into 12 subcommittees, each led by a clinician with advanced expertise in tuberous sclerosis complex and the relevant medical subspecialty. Each subcommittee focused on a specific disease area with important diagnostic …
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