Zeynep Gokce-Samar, Annalisa Vetro, Julitta De Bellescize, Tiziana Pisano, Laloe Monteiro, Noémie Penaud, Christian M Korff, Joel Fluss, Carla Marini, Elisabetta Cesaroni, Blanca Mercedes Alvarez, Damien Sanlaville, Nicolas Chatron, Alexis A Arzimanoglou, Audrey Labalme, Vishnu A Cuddapah, Sarah M Ruggiero, Francois Lecoquierre, Gael Nicolas, Guerrot Anne Marie, Axel Lebas, Herve O Testard, Katherine L Helbig, Anna Ruiz, Adeline Ngoh, Manju A Kurian, Kimberley Reid, Robert Spaull, Pascal Joset, Georgia Ramantani, Katharina Steindl, Martin Krenn, Lucia Gerstl, Silvia Vieker, Dana Craiu, Manuela Pendziwiat, Chad Haldeman-Englert, Ilya Kanivets, Irina Romanova, Deepa S Rajan, Jill A Rosenfeld, Margaret Au, Katheryn Grand, John Graham, Arnaud Isapof, Nathalie Villeneuve, Thomas Smol, Roseline Caumes, Pia Zacher, Sonja Neuser, Sigrid Tinschert, Konrad Platzer, Tobias Bartolomaeus, Ines Mohnke, Maximilian Radtke, Rami Abou Jamra, Ingo Helbig, Floortje E Jansen, Klaas Koop, Gabrielle Rudolf, Sebastien Küry, Julien Courchet, Renzo Guerrini, Gaetan Lesca
BACKGROUND AND OBJECTIVES: Heterozygous variants in RAR-related orphan receptor B ( RORB ) have recently been associated with susceptibility to idiopathic generalized epilepsy. However, few reports have been published so far describing pathogenic variants of this gene in patients with epilepsy and intellectual disability (ID). In this study, we aimed to delineate the epilepsy phenotype associated with RORB pathogenic variants and to provide arguments in favor of the pathogenicity of variants...
January 23, 2024: Neurology