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CHAPTER 5
Author Contributions
AB, DB, AM, EV and EA conceived the study and participated in its design and coordination. FJ, WS, WD, VG, TS, JH, MF, KK, SJ, WG, AMB, CC, FG, LG, AS, AM and EA contributed to the collection and selection of tissue samples and/or clinical data. AB, DB, JJ and JS processed human brain tissue. AB, JJ, JM, and BS performed the bioinformatics. RT-qPCR, immunohistochemistry, in situ hybridization and cell culture experiments were performed by AB, DB and JJ supported by CM and JA. Analysis of the data was performed by AB, DB and JJ. AB, DB, JJ, JM, AS, EV, AM and EA contributed to the data interpretation and writing of the manuscript. 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; 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 Pathology, Faculty of Medicine, Hacettepe University, Ankara, Turkey: F. Söylemezoğlu). In this regard we would like to acknowledge all personnel involved in sending us brain tissue. 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. We acknowledge the HIS Mouse Facility of the Amsterdam UMC and the Bloemenhove Clinic (Heemstede, The Netherlands) for providing fetal tissues.