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SEGA IN TSC HAVE TSC1/TSC2 BIALLELIC INACTIVATION & NO BRAF MUTATIONS
Author Contributions
EA and AM conceived the study and participated in its design and coordination together with DK. FJ, WS, WD, RC, IB, WP, TS, MF, KK, SJ, AMB, CC, FG, LG, FS, JP, AS, AM and EA contributed to the collection and selection of tissue samples and/or clinical data. KG, MN and DK performed the DNA analyses including MPS. AB, KG conducted and analyzed most of the experiments supported by RR, JA and DK. AB, KG, JM, AM, EA and DK wrote the paper. All authors read and approved the final manuscript.
Acknowledgements
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, Institute of Neurology, Department of Neurosurgery, Medical University Vienna, Austria: T. Czech, J. Hainfellner; 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; Laboratory of Neuropathology, Department of Neurology, Hospital de Santa Maria (CHLN), Lisbon, Portugal; Department of Human Pathology and Oncology, University of Florence and Division of Neurosurgery, ‘Anna Meyer’ Pediatric Hospital, Florence, Italy).
Funding
This work was supported by KIKA (Stichting Kinderen Kankervrij; AB, EA) and Stichting AMC Foundation (EA); the Austrian Science Fund (FWF, no. J3499; AM); the European Union 7th framework program: acronym EPISTOP (grant agreement no. 602391; FJ, TS, SJ, JJ, MF, AM, EA, DK); the Polish Ministerial funds for science (years 2014-2018) for the implementation of international co-financed project (KK, SJ).
Conflicts of Interest
None of the authors has any conflict of interest to disclose. We confirm that we have read the Journal’s position on issues involved in ethical publication and affirm that this report is consistent with those guidelines.
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