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Linking mTOR to deregulated GABA signaling in developmental epilepsy

Epilepsie is een veel voorkomende neurologische aandoening. Het behandelen van genetische epilepsie aan het begin van de kinderjaren is een uitdaging. 

Om de onderliggende mechanismen van ontwikkelingsepilepsie op te helderen, brengen we onderzoekers samen met expertise in epilepsie, neuropathologie en neurofysiologie. We zullen nieuwe sequentietechnologieën combineren met stamcel-gebaseerde modelsystemen.

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Titel: Impaired GABAergic regulation and developmental immaturity in interneurons derived from the medial ganglionic eminence in the tuberous sclerosis complex
Auteur: Mirte Scheper, Frederik N F Sørensen, Gabriele Ruffolo, Alessandro Gaeta, Lilian J Lissner, Jasper J Anink, Irina Korshunova, Floor E Jansen, Kate Riney, Wim van Hecke, Angelika Mühlebner, Konstantin Khodosevich, Dirk Schubert, Eleonora Palma, James D Mills, Eleonora Aronica
Magazine: Acta Neuropathologica
Begin- en eindpagina: 1-18
Link: https://link.springer.com/article/10.1007/s00401-024-02737-7
Titel: Epileptogenesis in tuberous sclerosis complex-related developmental and epileptic encephalopathy
Auteur: Eleonora Aronica, Nicola Specchio, Mark J Luinenburg, Paolo Curatolo
Magazine: Brain
Begin- en eindpagina: 2694-2710
Titel: Cell-cell communication dysregulation in tuberous sclerosis complex cortical tubers and focal cortical dysplasia
Auteur: Mirte Scheper, Jasper J Anink, Floor E Jansen, Wim Van Hecke, Angelika Mühlebner, James D Mills, Eleonora Aronica
Magazine: Acta Neuropathologica Communications
Begin- en eindpagina: 1-18
Link: https://actaneurocomms.biomedcentral.com/articles/10.1186/s40478-025-02113-w
Titel: Altered somatostatin receptor 3 expression and functional dysregulation in tuberous sclerosis complex
Auteur: Mirte Scheper, Alessandro Gaeta, Gabriele Ruffolo, Lilian J. Lissner, Marie Le Bihan, Jasper J. Anink, Floor E. Jansen, Wim van Hecke, Angelika Mühlebner, Dirk Schubert, James D. Mills, Eleonora Palma, Eleonora Aronica
Magazine: Progress in Neurobiology
Titel: mTOR and neuroinflammation in epilepsy: implications for disease progression and treatment
Auteur: Ravizza T, Scheper M, Di Sapia R, Gorter J, Aronica E, Vezzani A.
Magazine: Nat Rev Neurosci
Begin- en eindpagina: 334-350
Titel: Is tuberous sclerosis complex associated autism a preventable and treatable disorder?
Auteur: Paolo Curatolo , Mirte Scheper , Leonardo Emberti Gialloreti , Nicola Specchio , Eleonora Aronica
Magazine: World J Pediatr
Begin- en eindpagina: 40-53
Titel: Mechanistic strategies for secondary prevention of developmental and epileptic encephalopathy in children with tuberous sclerosis complex
Auteur: Nicola Specchio , Valentina Di Micco , Mirte Scheper, Eleonora Aronica , Paolo Curatolo
Magazine: EbioMedicine
Begin- en eindpagina: 1-13
Titel: Impaired GABAergic Regulation and Developmental Immaturity in Interneurons Derived from the MGE in TSC
Auteur: Mirte Scheper
Titel: Ontmoet de Onderzoeker (meeting with patients)
Auteur: Marie Le Bihan, Mirte Scheper en Rozemarijn Kalf: PhD students
Titel: mTOR hyperactivation drives mutation-specific hyperactivity in hiPSC-derived neuronal networks through altered GABAergic signaling
Auteur: Marie Le Bihan
Titel: Unravelling MTORopathies: MTOR hyperactivation induces mutation-specific functional phenotypes in human neuronal networks
Auteur: Marie le Bihan
Titel: The mTOR-inflammation link in developmental and epileptic encephalopathies
Auteur: Eleonora Aronica
Titel: Epileptic networks in mTORopathies: Impaired gabaergic regulation and developmental immaturity in interneurons in Tuberous Sclerosis Complex
Auteur: Mirte Scheper
Titel: Ontmoet de onderzoeker – kruip in de rol van wetenschapper (meeting with patients
Auteur: Mirte Scheper en Rozemarijn Kalf: PhD students
Titel: Pathological network in TSC
Auteur: Eleonora Aronica
Titel: Meet the researcher (meeting with patients)
Auteur: Mirte Schiper from Amsterdam UMC, UvA, and Marie le Bihan from Radboudumc
Titel: Linking hyperactivation of the mTOR pathway and the GABAergic signaling immaturity in developmental epilepsy
Auteur: Marie le Bihan
Titel: Epileptic networks in mTORopathies: mTOR hyperactivation induces mutation-specific functional phenotypes in human neuronal networks
Auteur: Marie Le Bihan
Titel: Together for Epilepsy (meeting with patients)
Auteur: Mirte Schiper from Amsterdam UMC, UvA, and Marie le Bihan from Radboudumc. We also had a presentation by Rozemarijn Kalf, a master's student, focusing on experimental research
Titel: Cellular and Molecular Mechanisms of Epileptogenesis in mTORopathies:
Auteur: Mirte Scheper

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