1. Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases. (29th October 2015) Authors: Di Meglio, Chloé; Lesca, Gaetan; Villeneuve, Nathalie; Lacoste, Caroline; Abidi, Affef; Cacciagli, Pierre; Altuzarra, Cécilia; Roubertie, Agathe; Afenjar, Alexandra; Renaldo‐Robin, Florence; Isidor, Bertrand; Gautier, Agnes; Husson, Marie; Cances, Claude; Metreau, Julia; Laroche, Cécile; Chouchan... Journal: Epilepsia Issue: Volume 56:issue 12(2015:Dec.) Page Start: 1931 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Extension of the phenotypic spectrum of GLE1‐related disorders to a mild congenital form resembling congenital myopathy. Issue 8 (14th June 2020) Authors: Cerino, Mathieu; Di Meglio, Chloé; Albertini, Francesca; Audic, Frédérique; Riccardi, Florence; Boulay, Christophe; Philip, Nicole; Bartoli, Marc; Lévy, Nicolas; Krahn, Martin; Chabrol, Brigitte Journal: Molecular genetics & genomic medicine Issue: Volume 8:Issue 8(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗