Characterization of a Novel Splicing Variant in Acylglycerol Kinase (AGK) Associated with Fatal Sengers Syndrome by Barbosa-Gouveia, Sofia, Vázquez-Mosquera, Maria E, Gonzalez-Vioque, Emiliano, Hermida-Ameijeiras, Álvaro, Valverde, Laura L, Armstrong-Moron, Judith, Fons-Estupiña, Maria Del Carmen, Wintjes, Liesbeth T, Kappen, Antonia, Rodenburg, Richard J, Couce, Maria L

Get full text

IQSEC2 disorder: A new disease entity or a Rett spectrum continuum? by Lopergolo, Diego, Privitera, Flavia, Castello, Giuseppe, Lo Rizzo, Caterina, Mencarelli, Maria Antonietta, Pinto, Anna Maria, Ariani, Francesca, Currò, Aurora, Lamacchia, Vittoria, Canitano, Roberto, Vaghi, Elisabetta, Ferrarini, Alessandra, Baltodano, Gerardo Mejia, Lederer, Damien, Van Maldergem, Lionel, Serrano, Mercedes, Pineda, Mercè, Fons‐Estupina, Maria Del Carmen, Van Esch, Hilde, Breckpot, Jeroen, Kumps, Candy, Callewaert, Bert, Mueller, Sabrina, Ramelli, Gian Paolo, Armstrong, Judith, Renieri, Alessandra, Mari, Francesca

Get full text

Epilepsy and cannabidiol: a guide to treatment by Arzimanoglou, Alexis, Brandl, Ulrich, Cross, J. Helen, Gil‐Nagel, Antonio, Lagae, Lieven, Landmark, Cecilie Johannessen, Specchio, Nicola, Nabbout, Rima, Thiele, Elizabeth A., Gubbay, Oliver

Get full text

Encephalopathies with intracranial calcification in children: clinical and genetic characterization by Tonduti, Davide, Panteghini, Celeste, Pichiecchio, Anna, Decio, Alice, Carecchio, Miryam, Reale, Chiara, Moroni, Isabella, Nardocci, Nardo, Campistol, Jaume, Garcia-Cazorla, Angela, Perez Duenas, Belen, Chiapparini, Luisa, Garavaglia, Barbara, Orcesi, Simona

Get full text