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Displaying 3 results.
    • Journal article
    Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.
    Schoonjans, An Sofie Johannesen, Katrine M Liu, Yuanyuan Koko, Mahmoud Gjerulfsen, Cathrine E Sonnenberg, Lukas Schubert, Julian Fenger, Christina D Eltokhi, Ahmed Rannap, Maert Koch, Nils A Lauxmann, Stephan Krüger, Johanna Kegele, Josua Canafoglia, Laura Franceschetti, Silvana Mayer, Thomas Rebstock, Johannes Zacher, Pia Ruf, Susanne Alber, Michael Sterbova, Katalin Lassuthová, Petra Vlckova, Marketa Lemke, Johannes R Platzer, Konrad Krey, Ilona Heine, Constanze Wieczorek, Dagmar Kroell-Seger, Judith Lund, Caroline Klein, Karl Martin Au, P Y Billie Rho, Jong M Ho, Alice W Masnada, Silvia Veggiotti, Pierangelo Giordano, Lucio Accorsi, Patrizia Hoei-Hansen, Christina E Striano, Pasquale Zara, Federico Verhelst, Helene Verhoeven, Judith S Braakman, Hilde M H van der Zwaag, Bert Harder, Aster V E Brilstra, Eva Pendziwiat, Manuela Lebon, Sebastian Vaccarezza, Maria Le, Ngoc Minh Christensen, Jakob Grønborg, Sabine Scherer, Stephen W Howe, Jennifer Fazeli, Walid Howell, Katherine B Leventer, Richard Stutterd, Chloe Walsh, Sonja Gerard, Marion Gerard, Bénédicte Matricardi, Sara Bonardi, Claudia M Sartori, Stefano Berger, Andrea Hoffman-Zacharska, Dorota Mastrangelo, Massimo Darra, Francesca Vøllo, Arve Motazacker, M Mahdi Lakeman, Phillis Nizon, Mathilde Betzler, Cornelia Altuzarra, Cecilia Caume, Roseline Roubertie, Agathe Gélisse, Philippe Marini, Carla Guerrini, Renzo Bilan, Frederic Tibussek, Daniel Koch-Hogrebe, Margarete Perry, M Scott Ichikawa, Shoji Dadali, Elena Sharkov, Artem Mishina, Irina Abramov, Mikhail Kanivets, Ilya Korostelev, Sergey Kutsev, Sergey Wain, Karen E Eisenhauer, Nancy Wagner, Monisa Savatt, Juliann M Müller-Schlüter, Karen Bassan, Haim Borovikov, Artem Nassogne, Marie-Cécile[UCL] Destrée, Anne (2022) Brain — Vol. 145, no.9, p. 2991-3009 (2022)
    • Journal article
    Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome.
    Bar, Claire Kuchenbuch, Mathieu Barcia, Giulia Schneider, Amy Jennesson, Mélanie Le Guyader, Gwenaël Lesca, Gaetan Mignot, Cyril Montomoli, Martino Parrini, Elena Isnard, Hervé Rolland, Anne Keren, Boris Afenjar, Alexandra Dorison, Nathalie Sadleir, Lynette G Breuillard, Delphine Levy, Raphael Rio, Marlène Dupont, Sophie Negrin, Susanna Danieli, Alberto Scalais, Emmanuel De Saint Martin, Anne El Chehadeh, Salima Chelly, Jamel Poisson, Alice Lebre, Anne-Sophie Nica, Anca Odent, Sylvie Sekhara, Tayeb Brankovic, Vesna Goldenberg, Alice Vrielynck, Pascal[UCL] Lederer, Damien Maurey, Hélène Terrone, Gaetano Besmond, Claude Hubert, Laurence Berquin, Patrick Billette de Villemeur, Thierry Isidor, Bertrand Freeman, Jeremy L Mefford, Heather C Myers, Candace T Howell, Katherine B Rodríguez-Sacristán Cascajo, Andrés Meyer, Pierre Genevieve, David Guët, Agnès Doummar, Diane Durigneux, Julien van Dooren, Marieke F de Wit, Marie Claire Y Gerard, Marion Marey, Isabelle Munnich, Arnold Guerrini, Renzo Scheffer, Ingrid E Kabashi, Edor Nabbout, Rima (2020) Epilepsia — Vol. 61, no.11, p. 2461-2473 (2020)
    • Journal article
    Dynamic action potential clamp predicts functional separation in mild familial and severe de novo forms of epilepsy.
    Berecki, Géza Howell, Katherine B Deerasooriya, Yadeesha H Cilio, Maria-Roberta[UCL] Oliva, Megan K Kaplan, David Scheffer, Ingrid E Berkovic, Samuel F Petrou, Steven (2018) Proceedings of the National Academy of Sciences of the United States of America — Vol. 115, no.24, p. E5516-E5525 (2018)