TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study
Barbara Ogórek, Lana Hamieh, Hanna M. Hulshof, Kathryn D. Lasseter, Katarzyna Klonowska, Hugo J. Kuijf, Romina Moavero, Christoph Hertzberg, Bernhard Weschke, Kate Riney, Martha Feucht, Theresa O. Scholl, Pavel Kršek, Rima Nabbout, Anna Jansen, Barbora Beňová, Eleonora Aronica, Lieven Lagae, Paolo Curatolo, Julita Borkowska, Krzysztof Sadowski, Dorota Domańska‐Pakieła, Stef Janson, Piotr Kozłowski, Małgorzata Urbańska, Jacek Jaworski, Sergiusz Jóźwiak, Floor E. Jansen, Katarzyna Kotulska, David J. Kwiatkowski
Topics & Concepts
TSC1Subependymal giant cell astrocytomaTuberous sclerosisTSC2Multiplex ligation-dependent probe amplificationMedicineEpilepsyMagnetic resonance imagingCortical dysplasiaPathologyPediatricsAstrocytomaBiologyGliomaRadiologyGeneticsCancer researchPsychiatryGenePI3K/AKT/mTOR pathwayExonApoptosisTuberous Sclerosis Complex ResearchRenal cell carcinoma treatmentPI3K/AKT/mTOR signaling in cancer