Article
Molecular and Phenotypic Characterization of the RORB-Related Disorder.
Neurology - 23 Jan 2024
Gokce-Samar Zeynep, Vetro Annalisa, De Bellescize Julitta, Pisano Tiziana, Monteiro Laloe, Penaud Noémie, Korff Christian M, Fluss Joel, Marini Carla, Cesaroni Elisabetta, Alvarez Blanca Mercedes, Sanlaville Damien, Chatron Nicolas, Arzimanoglou Alexis A, Labalme Audrey, Cuddapah Vishnu A, Ruggiero Sarah M, Lecoquierre Francois, Nicolas Gael, Marie Guerrot Anne, Lebas Axel, Testard Herve O, Helbig Katherine L, Ruiz Anna, Ngoh Adeline, Kurian Manju A, Reid Kimberley, Spaull Robert, Joset Pascal, Ramantani Georgia, Steindl Katharina, Krenn Martin, Gerstl Lucia, Vieker Silvia, Craiu Dana, Pendziwiat Manuela, Haldeman-Englert Chad, Kanivets Ilya, Romanova Irina, Rajan Deepa S, Rosenfeld Jill A, Au Margaret, Grand Katheryn, Graham John, Isapof Arnaud, Villeneuve Nathalie, Smol Thomas, Caumes Roseline, Zacher Pia, Neuser Sonja, Tinschert Sigrid, Platzer Konrad, Bartolomaeus Tobias, Mohnke Ines, Radtke Maximilian, Jamra Rami Abou, Helbig Ingo, Jansen Floortje E, Koop Klaas, Rudolf Gabrielle, Küry Sebastien, Courchet Julien, Guerrini Renzo, Lesca Gaetan
Abstract excerpt
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...
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