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Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications

Autor: Johannesen, Katrine Marie, Liu, Yuanyuan, Gjerulfsen, Catherine E., Koko, Mahmoud, Sonnenberg, Lukas, Schubert, Julian, Fenger, Christina Duhring, Eltokhi, Ahmed, Rannap, Maert, Koch, Nils, Lauxmann, Stephan, Krueger, Johanna, Kegele, Josua, Canafoglia, Laura, Franceschetti, Silvana, Mayer, Thomas, Rebstock, Johannes, Zacher, Pia, Ruf, Susanne, Alber, Michael, Sterbova, Katalin, Lassuthova, Petra, Vlckova, Marketa, Lemke, Johannes, Krey, Ilona, Heine, Constanze, Wieczorek, Dagmar, Kroell, Judith, Lund, Caroline, Klein, Karl Martin, Au, Py Billie, Rho, Jong, Ho, Alice, Masnada, Silvia, Veggiotti, Pierangelo, Giordano, Lucio, Accorsi, Patrizia, Hoi-Hansen, Christina, Striano, Pasquale, Zara, Federico, Verhelst, Helene, Verhoeven, Judith S., van der Zwaag, Bert, Harder, Aster, Brilstra, Eva, Pendziwiat, Manuela, Lebon, Sebastien, Vaccarezza, Maria, Le, Ngoc Minh, Christensen, Jakob, Schmidt-Petersen, Mette, Gronborg, Sabine, Scherer, Stephen, Howe, Jennifer, Fazeli, Walid, Howell, Katherine, Leventer, Richard, Stutterd, Chloe, Walsh, Sonja, Gerard, Marion, Gerard, Benedicte, Matricardi, Sara, Bonardi, Claudia M., Sartori, Stefano, Berger, Andrea, Hoffman-Zacharska, Dorota, Mastrangelo, Massimo, Darra, Francesca, Vollo, Arve, Motazacker, M. Mahdi, Lakeman, Phillis, Nizon, Mathilde, Betzler, Cornelia, Altuzarra, Cecilia, Caumes, Roseline, Roubertie, Agathe, Gelisse, Philippe, Marini, Carla, Guerrini, Renzo, Bilan, Frederic, Koch-Hogrebe, Margarete, Perry, 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, Mueller-Schlueter, Karen, Bassan, Haim, Borovikov, Artem, Nassogne, Marie-Cecile, Destree, Anne, Schoonjans, An-Sofie, Meuwissen, Marije, Buzatu, Marga, Jansen, Anna, Scalais, Emmanuel, Srivastava, Siddarth, Tan, Wen-Hann, Olson, Heather, Loddenkemper, Tobias, Poduri, Annapurna, Helbig, Katherine L., Helbig, Ingo, Fitzgerald, Mark, Goldberg, Ethan M., Roser, Timo, Borggrafe, Ingo, Brunger, Tobias, May, Patrick, Lal, Dennis, Lederer, Damien, Rubboli, Guido, Lesca, Gaetan, Hedrich, Ulrike, Benda, Jan, Gardella, Elena, Lerche, Holger, Moeller, Rikke Steensbjerre

Publikováno v: Johannesen, K M, Liu, Y, Gjerulfsen, C E, Koko, M, Sonnenberg, L, Schubert, J, Fenger, C D, Eltokhi, A, Rannap, M, Koch, N, Lauxmann, S, Krueger, J, Kegele, J, Canafoglia, L, Franceschetti, S, Mayer, T, Rebstock, J, Zacher, P, Ruf, S, Alber, M, Sterbova, K, Lassuthova, P, Vlckova, M, Lemke, J, Krey, I, Heine, C, Wieczorek, D, Kroell, J, Lund, C, Klein, K M, Au, P B, Rho, J, Ho, A, Masnada, S, Veggiotti, P, Giordano, L, Accorsi, P, Hoi-Hansen, C, Striano, P, Zara, F, Verhelst, H, Verhoeven, J S, van der Zwaag, B, Harder, A, Brilstra, E, Pendziwiat, M, Lebon, S, Vaccarezza, M, Le, N M, Christensen, J, Schmidt-Petersen, M, Gronborg, S, Scherer, S, Howe, J, Fazeli, W, Howell, K, Leventer, R, Stutterd, C, Walsh, S, Gerard, M, Gerard, B, Matricardi, S, Bonardi, C M, Sartori, S, Berger, A, Hoffman-Zacharska, D, Mastrangelo, M, Darra, F, Vollo, A, Motazacker, M M, Lakeman, P, Nizon, M, Betzler, C, Altuzarra, C, Caumes, R, Roubertie, A, Gelisse, P, Marini, C, Guerrini, R, Bilan, F, Koch-Hogrebe, M, Perry, S, Ichikawa, S, Dadali, E, Sharkov, A, Mishina, I, Abramov, M, Kanivets, I, Korostelev, S, Kutsev, S, Wain, K E, Eisenhauer, N, Wagner, M, Savatt, J, Mueller-Schlueter, K, Bassan, H, Borovikov, A, Nassogne, M-C, Destree, A, Schoonjans, A-S, Meuwissen, M, Buzatu, M, Jansen, A, Scalais, E, Srivastava, S, Tan, W-H, Olson, H, Loddenkemper, T, Poduri, A, Helbig, K L, Helbig, I, Fitzgerald, M, Goldberg, E M, Roser, T, Borggrafe, I, Brunger, T, May, P, Lal, D, Lederer, D, Rubboli, G, Lesca, G, Hedrich, U, Benda, J, Gardella, E, Lerche, H & Moeller, R S 2021, ' Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications ', Epilepsia, vol. 62, no. Suppl. 3, 80, pp. 34-36 . https://doi.org/10.1111/epi.17079

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3062::80cf7da5c507b677606c3e69b5c0108d
https://portal.findresearcher.sdu.dk/da/publications/dbc1ad76-767b-4f9b-ae13-c20c093d233e

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