Naturally Occurring Carboxypeptidase A6 Mutations: EFFECT ON ENZYME FUNCTION AND ASSOCIATION WITH EPILEPSY

Por Sapio, Matthew R., Salzmann, Annick, Vessaz, Monique, Crespel, Arielle, Lyons, Peter J., Malafosse, Alain, Fricker, Lloyd D.
Publicado em 2012

Efficacy of naloxone in reducing postictal central respiratory dysfunction in patients with epilepsy: study protocol for a double-blind, randomized, placebo-controlled trial

Por Rheims, Sylvain, Valton, Luc, Michel, Véronique, Maillard, Louis, Navarro, Vincent, Convers, Philippe, Bartolomei, Fabrice, Biraben, Arnaud, Crespel, Arielle, Derambure, Philippe, de Toffol, Bertrand, Hirsch, Edouard, Kahane, Philippe, Martin, Martine Lemesle, Tourniaire, Didier, Boulogne, Sébastien, Mercier, Catherine, Roy, Pascal, Ryvlin, Philippe
Publicado no Trials (2016)

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

Por Muona, Mikko, Berkovic, Samuel F, Dibbens, Leanne M, Oliver, Karen L, Maljevic, Snezana, Bayly, Marta A, Joensuu, Tarja, Canafoglia, Laura, Franceschetti, Silvana, Michelucci, Roberto, Markkinen, Salla, Heron, Sarah E, Hildebrand, Michael S, Andermann, Eva, Andermann, Frederick, Gambardella, Antonio, Tinuper, Paolo, Licchetta, Laura, Scheffer, Ingrid E, Criscuolo, Chiara, Filla, Alessandro, Ferlazzo, Edoardo, Ahmad, Jamil, Ahmad, Adeel, Baykan, Betul, Said, Edith, Topcu, Meral, Riguzzi, Patrizia, King, Mary D, Ozkara, Cigdem, Andrade, Danielle M, Engelsen, Bernt A, Crespel, Arielle, Lindenau, Matthias, Lohmann, Ebba, Saletti, Veronica, Massano, João, Privitera, Michael, Espay, Alberto J, Kauffmann, Birgit, Duchowny, Michael, Møller, Rikke S, Straussberg, Rachel, Afawi, Zaid, Ben-Zeev, Bruria, Samocha, Kaitlin E, Daly, Mark J, Petrou, Steven, Lerche, Holger, Palotie, Aarno, Lehesjoki, Anna-Elina
Publicado no Nat Genet (2014)