CNS tumors with PLAGL1-fusion: beyond ZFTA and YAP1 in the genetic spectrum of supratentorial ependymomas

Autor: Arnault Tauziède-Espariat, Yvan Nicaise, Philipp Sievers, Felix Sahm, Andreas von Deimling, Delphine Guillemot, Gaëlle Pierron, Mathilde Duchesne, Myriam Edjlali, Volodia Dangouloff-Ros, Nathalie Boddaert, Alexandre Roux, Edouard Dezamis, Lauren Hasty, Benoît Lhermitte, Edouard Hirsch, Maria Paola Valenti Hirsch, François-Daniel Ardellier, Mélodie-Anne Karnoub, Marie Csanyi, Claude-Alain Maurage, Karima Mokhtari, Franck Bielle, Valérie Rigau, Thomas Roujeau, Marine Abad, Sébastien Klein, Michèle Bernier, Catherine Horodyckid, Clovis Adam, Petter Brandal, Pitt Niehusmann, Quentin Vannod-Michel, Corentin Provost, Nicolas Menjot de Champfleur, Lucia Nichelli, Alice Métais, Cassandra Mariet, Fabrice Chrétien, Thomas Blauwblomme, Kévin Beccaria, Johan Pallud, Stéphanie Puget, Emmanuelle Uro-Coste, Pascale Varlet, RENOCLIP-LOC

Publikováno v: Acta Neuropathologica Communications, Vol 12, Iss 1, Pp 1-14 (2024)

Abstract A novel methylation class, “neuroepithelial tumor, with PLAGL1 fusion” (NET-PLAGL1), has recently been described, based on epigenetic features, as a supratentorial pediatric brain tumor with recurrent histopathological features suggestin

Externí odkaz: https://doaj.org/article/253f513f0c24444cb06744c441d6cc69

Genetic generalized epilepsy and generalized onset seizures with focal evolution (GOFE)

Autor: Florian Lamy, Maria-Paola Valenti-Hirsch, Lucas Gauer, Bénédicte Gérard, Mohamed Obeid, Anne de Saint-Martin, Vera Dinkelacker, Sarah Baer, Edouard Hirsch

Publikováno v: Epilepsy & Behavior Reports, Vol 19, Iss , Pp 100555- (2022)

“Generalized Onset with Focal Evolution” (GOFE) is an underrecognized seizure type defined by an evolution from generalized onset to focal activity during the same ictal event. We aimed to discuss electroclinical aspects of GOFE and to emphasize

Externí odkaz: https://doaj.org/article/3456aa68db204b8d82c20b18799f52b1

Connectivity Alterations in Emotional and Cognitive Networks During a Manic State Induced by Direct Electrical Stimulation

Autor: Julia Scholly, Adrien Gras, Maxime Guye, Mathias Bilger, Maria Paola Valenti Hirsch, Edouard Hirsch, Alexander Timofeev, Pierre Vidailhet, Christian G. Bénar, Fabrice Bartolomei

Publikováno v: Brain Topography: a Journal of Cerebral Function and Dynamics
Brain Topography: a Journal of Cerebral Function and Dynamics, 2022, 35 (5-6), pp.627-635. ⟨10.1007/s10548-022-00913-0⟩

Mania is characterized by affective and cognitive alterations, with heightened external and self-awareness that are opposite to the alteration of awareness during epileptic seizures. Electrical stimulations carried out routinely during stereotactic i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0372887e21a19f7c560026150a70e242
https://amu.hal.science/hal-03962213

Biomarqueurs radiologiques de l’encéphalite de Rasmussen à début tardif

Autor: Nguyen Alexis Baloglu Seyyid, Stanislas Lagarde, Anne De Saint Martin, Maria Paola Valenti-Hirsch, Stéphane Kremer, Edouard Hirsch, Vera Dinkelacker

Publikováno v: Revue Neurologique. 179:S17

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::3c7ab8934ad09f36bf2601080f4fc7e2
https://doi.org/10.1016/j.neurol.2023.01.031

Exome sequencing in 57 patients with self-limited focal epilepsies of childhood with typical or atypical presentations suggests novel candidate genes

Autor: Emmanuelle Ollivier, Gabrielle Rudolf, Gaetan Lesca, Patrick Nitschke, Anne Boland, Edouard Hirsch, Clotilde Boulay, Maria Paola Valenti Hirsch, Julitta de Bellescize, Jamel Chelly, Damien Sanlaville, Anne de Saint Martin, Audrey Labalme, Alexis Arzimanoglou, Jean-François Deleuze, Thomas Simonet

Publikováno v: European Journal of Paediatric Neurology
European Journal of Paediatric Neurology, Elsevier, 2020, 27, pp.104-110. ⟨10.1016/j.ejpn.2020.05.003⟩

Objective Self-limited focal epilepsies of childhood (SFEC) are amongst the best defined and most frequent epilepsy syndromes affecting children with usually normal developmental milestones. They include core syndromes such as Rolandic epilepsy or �

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e04efe497c5b3d4f6e3264a66d5aa44d
https://doi.org/10.1016/j.ejpn.2020.05.003