The authors thank all supporters of the TSC brain bank (Laboratory of Molecular and Cellular Neurobiology, International Institute of Molecular and Cell Biology, Warsaw, Poland: J. Jaworski, A Tempes; The Service d’ Anatomie Pathologique, CHI de Creteil and Inserm U676, Hospital Robert Debre, Paris, France: H. Adle-Biassette; Department of Pediatrics, Division of Neuropathology and Neurochemistry, Department of Neurology, Department of Neurosurgery, Medical University Vienna, Austria: M. Feucht, T. Scholl, J. Hainfellner, T. Czech; Department of Neurology and Pathology and Molecular Medicine, Charles University, 2nd Faculty of Medicine, Motol University Hospital, Prague, Czech Republic: P. Krsek, J. Zamecnik; Department of Neuropathology, John Radcliffe Hospital, Oxford, UK: C. Kennard; Department of Anatomic Pathology Sciences, Università Sapienza, Rome, Italy: M. Antonelli, F. Giangaspero; Insitute of Neuropathology, Westfälische Wilhelms – Universität Münster, Münster, Germany: W. Paulus, M. Hasselblatt; Department of Neuropathology, University Hospital Erlangen, Erlangen, Germany: R. Coras, I. Blümcke; Bethel Epilepsy Centre, Bielefeld, Germany: T. Polster, C.G. Bien; Laboratory of Neuropathology, Department of Neurology, Hospital de Santa Maria (CHLN), Lisbon, Portugal: J. Pimentel; Department of Human Pathology and Oncology, University of Florence and Division of Neurosurgery, ‘Anna Meyer’ Pediatric Hospital, Florence, Italy: A. M. Buccoliero, F. Giordano; Department of Pathology, Faculty of Medicine, Hacettepe University, Ankara, Turkey: F. Söylemezoğlu). In this regard we would like to acknowledge all personnel involved in sending us the material. Furthermore, the authors would like to thank Dr. Mark Nellist (Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands) and Dr. David J. Kwiatkowski, MD, PhD (Division of Experimental Medicine and Medical Oncology, Brigham and Women's Hospital, Boston, USA) for performing TSC1/TSC2 mutation analysis.
EA, JM and AM conceived the study and participated in its design and coordination. FJ, WS, WD, RC, IB, WP, VG, TS, JH, MF, KK, SJ, WG, AMB, CC, FG, LG, FS, JP, AM and EA contributed to the collection and selection of tissue samples or clinical data. DJ performed the methylation 450K analysis. AB, JM, DJ and BS performed the bioinformatics. DNA/RNA isolation, immunohistochemistry and evaluation of immunohistochemistry was performed by AB, supported by AM, CM and JA. Analysis of the data was performed by AB, JM and AM. AB, JM, DJ, BS, AS, AM and EA wrote the paper. All authors read and approved the final manuscript.
This work was supported by KIKA (Stichting Kinderen Kankervrij; AB, AM, AS, BS, EA); Stichting AMC Foundation (EA); Stichting TSC Fonds (EA); the Austrian Science Fund (FWF, no. J3499; AM); the European Union 7th framework program: acronym EPISTOP (grant agreement no. 602391; FJ, VG, TS, MF, SJ, AM, JM, EA) and acronym DESIRE (grant agreement no. 602531; IB); the European Union’s Horizon 2020 WIDESPREAD-05-2020–Twinning, (EpiEpiNet; EA,JM), grant agreement no. 952455; the Polish Ministerial funds for science (years 2013-2018) for the implementation of international co-financed project (KK, SJ) and internal research project of the Children’s Memorial Health Institute no.S132/2013 (KK, SJ).
Conflict of Interest
The authors have no duality or conflicts of interest to declare.
The datasets used and/or analysed during the current study are available from the corresponding author on request.
Specimens were obtained and used in accordance with the Declaration of Helsinki and this study was approved by the Medical Ethics Committees of each institution.