Clinical Phenotype of De Novo GNAO1 Mutation: Case Report and Review of Literature

por Talvik, Inga, Møller, Rikke S., Vaher, Merilin, Vaher, Ulvi, Larsen, Line HG, Dahl, Hans A., Ilves, Pilvi, Talvik, Tiina
Publicado 2015

Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy

por Møller, Rikke S., Weckhuysen, Sarah, Chipaux, Mathilde, Marsan, Elise, Taly, Valerie, Bebin, E. Martina, Hiatt, Susan M., Prokop, Jeremy W., Bowling, Kevin M., Mei, Davide, Conti, Valerio, de la Grange, Pierre, Ferrand-Sorbets, Sarah, Dorfmüller, Georg, Lambrecq, Virginie, Larsen, Line H.G., Leguern, Eric, Guerrini, Renzo, Rubboli, Guido, Cooper, Gregory M., Baulac, Stéphanie
Publicado 2016