A204E mutation in Na(v)1.4 DIS3 exerts gain- and loss-of-function effects that lead to periodic paralysis combining hyper- with hypo-kalaemic signs

por Kokunai, Yosuke, Dalle, Carine, Vicart, Savine, Sternberg, Damien, Pouliot, Valérie, Bendahhou, Said, Fournier, Emmanuel, Chahine, Mohamed, Fontaine, Bertrand, Nicole, Sophie
Publicado 2018

Hypokalaemic periodic paralysis with a charge-retaining substitution in the voltage sensor

por Kubota, Tomoya, Wu, Fenfen, Vicart, Savine, Nakaza, Maki, Sternberg, Damien, Watanabe, Daisuke, Furuta, Mitsuru, Kokunai, Yosuke, Abe, Tatsuya, Kokubun, Norito, Fontaine, Bertrand, Cannon, Stephen C, Takahashi, Masanori P
Publicado 2020

Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy

por Freyermuth, Fernande, Rau, Frédérique, Kokunai, Yosuke, Linke, Thomas, Sellier, Chantal, Nakamori, Masayuki, Kino, Yoshihiro, Arandel, Ludovic, Jollet, Arnaud, Thibault, Christelle, Philipps, Muriel, Vicaire, Serge, Jost, Bernard, Udd, Bjarne, Day, John W., Duboc, Denis, Wahbi, Karim, Matsumura, Tsuyoshi, Fujimura, Harutoshi, Mochizuki, Hideki, Deryckere, François, Kimura, Takashi, Nukina, Nobuyuki, Ishiura, Shoichi, Lacroix, Vincent, Campan-Fournier, Amandine, Navratil, Vincent, Chautard, Emilie, Auboeuf, Didier, Horie, Minoru, Imoto, Keiji, Lee, Kuang-Yung, Swanson, Maurice S., de Munain, Adolfo Lopez, Inada, Shin, Itoh, Hideki, Nakazawa, Kazuo, Ashihara, Takashi, Wang, Eric, Zimmer, Thomas, Furling, Denis, Takahashi, Masanori P., Charlet-Berguerand, Nicolas
Publicado 2016