檢索結果 - Zeynep Gokce‐Samar

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  1. 1
    Insights from stereoelectroencephalography in <scp><i>KCNT1</i></scp>‐related focal epilepsy suggest a multifocal and migrating epileptogenic network

    Insights from stereoelectroencephalography in <scp><i>KCNT1</i></scp>‐related focal epilepsy suggest a multifocal and migrating epileptogenic network 由 Zeynep Gokce‐Samar, Gaëtan Lesca, Julie Bourgeois‐Vionnet, Jean Isnard, Sébastien Boulogne, Luc Valton, Hélène Catenoix, Claire Marcon‐Mohsen, Karine Ostrowsky‐Coste, Nicolas Chatron, Marc Guénot, Sylvain Rheims, Alexandra Montavont

    出版 2025
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    Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies

    Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies 由 Nathan L. Absalom, Vivian W. Y. Liao, Katrine M. Johannesen, Elena Gardella, Julia Jacobs, Gaëtan Lesca, Zeynep Gokce‐Samar, Alexis Arzimanoglou, Shimriet Zeidler, Pasquale Striano, Pierre Meyer, Ira Benkel-Herrenbrueck, Inger‐Lise Mero, Jutta Rummel, Mary Chebib, Rikke S. Møller, Philip K. Ahring

    出版 2022
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    Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption

    Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption 由 Caroline Nava, Benjamin Cogné, A. Santini, Elsa Leitão, François Lecoquierre, Yuyang Chen, Sarah L. Stenton, Thomas Besnard, Solveig Heide, Sarah Baer, Abhilasha Jakhar, Sonja Neuser, Boris Keren, Anne Faudet, Sylvie Forlani, Marie Faoucher, Kévin Uguen, Konrad Platzer, Alexandra Afenjar, Jean‐Luc Alessandri, Stephanie Andres, Chloé Angelini, Bernard Aral, Benoı̂t Arveiler, Tania Attié‐Bitach, Marion Aubert‐Mucca, Guillaume Banneau, Tahsin Stefan Barakat, Giulia Barcia, Stéphanie Baulac, Claire Bénéteau, Fouzia Benkerdou, Virginie Bernard, Stéphane Bézieau, Dominique Bonneau, Marie-Noelle Bonnet-Dupeyron, Simon Boussion, Odile Boute, Elise Brischoux‐Boucher, Samantha J. Bryen, Julien Buratti, Tiffany Busa, Almuth Caliebe, Yline Capri, Kévin Cassinari, Roseline Caumes, Camille Cenni, Pascal Chambon, Perrine Charles, John Christodoulou, Cindy Colson, Solène Conrad, Auriane Cospain, Juliette Coursimault, Thomas Courtin, Madeline Couse, Charles Coutton, Isabelle Creveaux, Alissa M. D’Gama, Benjamin Dauriat, Jean‐Madeleine de Sainte Agathe, Giulia Gobbo, Andrée Delahaye‐Duriez, Julian Delanne, Anne‐Sophie Denommé‐Pichon, Anne Dieux‐Coëslier, Laura Do Souto Ferreira, Martine Doco‐Fenzy, Stephan Drukewitz, Véronique Duboc, Christèle Dubourg, Yannis Duffourd, David A. Dyment, Salima El Chehadeh, Monique Elmaleh, Laurence Faivre, Samuel Fennelly, Hilde Fischer, Mélanie Fradin, Cédric Vaillant, Benjamin Ganne, Jamal Ghoumid, Himanshu Goel, Zeynep Gokce‐Samar, Alice Goldenberg, R. Robert, Svetlana Gorokhova, Louise Goujon, Victoria Granier, Mathilde Gras, John M. Greally, Bianca Greiten, Paul Gueguen, Anne‐Marie Guerrot, Saurav Guha, Anne Guimier, Tobias B. Haack, Hamza Hadj Abdallah, Yosra Halleb, Radu Harbuz

    出版 2025
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