Treatment of two infants with PIK3CA-related overgrowth spectrum by alpelisib

por Morin, Gabriel, Degrugillier-Chopinet, Caroline, Vincent, Marie, Fraissenon, Antoine, Aubert, Hélène, Chapelle, Célia, Hoguin, Clément, Dubos, François, Catteau, Benoit, Petit, Florence, Mezel, Aurélie, Domanski, Olivia, Herbreteau, Guillaume, Alesandrini, Marie, Boddaert, Nathalie, Boutry, Nathalie, Broissand, Christine, Han, Tianxiang Kevin, Branle, Fabrice, Sarnacki, Sabine, Blanc, Thomas, Guibaud, Laurent, Canaud, Guillaume
Publicado 2022

De novo KCNA6 variants with attenuated K(V) 1.6 channel deactivation in patients with epilepsy

por Salpietro, Vincenzo, Galassi Deforie, Valentina, Efthymiou, Stephanie, O'Connor, Emer, Marcé‐Grau, Anna, Maroofian, Reza, Striano, Pasquale, Zara, Federico, Morrow, Michelle M., Reich, Adi, Blevins, Amy, Sala‐Coromina, Júlia, Accogli, Andrea, Fortuna, Sara, Alesandrini, Marie, Au, P. Y. Billie, Singhal, Nilika Shah, Cogne, Benjamin, Isidor, Bertrand, Hanna, Michael G., Macaya, Alfons, Kullmann, Dimitri M., Houlden, Henry, Männikkö, Roope
Publicado 2022