Functional Effects of Epilepsy Associated KCNT1 Mutations Suggest Pathogenesis via Aberrant Inhibitory Neuronal Activity

por Rychkov, Grigori Y., Shaukat, Zeeshan, Lim, Chiao Xin, Hussain, Rashid, Roberts, Ben J., Bonardi, Claudia M., Rubboli, Guido, Meaney, Brandon F., Whitney, Robyn, Møller, Rikke S., Ricos, Michael G., Dibbens, Leanne M.
Publicado 2022

Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood

por Stamberger, Hannah, Crosiers, David, Balagura, Ganna, Bonardi, Claudia M., Basu, Anna, Cantalupo, Gaetano, Chiesa, Valentina, Christensen, Jakob, Dalla Bernardina, Bernardo, Ellis, Colin A., Furia, Francesca, Gardiner, Fiona, Giron, Camille, Guerrini, Renzo, Klein, Karl Martin, Korff, Christian, Krijtova, Hana, Leffner, Melanie, Lerche, Holger, Lesca, Gaetan, Lewis-Smith, David, Marini, Carla, Marjanovic, Dragan, Mazzola, Laure, McKeown Ruggiero, Sarah, Mochel, Fanny, Ramond, Francis, Reif, Philipp S., Richard-Mornas, Aurélie, Rosenow, Felix, Schropp, Christian, Thomas, Rhys H., Vignoli, Aglaia, Weber, Yvonne, Palmer, Elizabeth, Helbig, Ingo, Scheffer, Ingrid E., Striano, Pasquale, Møller, Rikke S., Gardella, Elena, Weckhuysen, Sarah
Publicado 2022