Publication: Molecular and Phenotypic Characterization of the RORB-Related Disorder
Molecular and Phenotypic Characterization of the RORB-Related Disorder
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Gokce-Samar, Z., Vetro, A., De Bellescize, J., Pisano, T., Monteiro, L., Penaud, N., Korff, C. M., Fluss, J., Marini, C., Cesaroni, E., Alvarez, B. M., Sanlaville, D., Chatron, N., Arzimanoglou, A. A., Labalme, A., Cuddapah, V. A., Ruggiero, S. M., Lecoquierre, F., Nicolas, G., ā¦ et al. (2024). Molecular and Phenotypic Characterization of the RORB-Related Disorder. Neurology, 102, e207945. https://doi.org/10.1212/wnl.0000000000207945
Abstract
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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.
Methods: Through an international collabo
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- Gokce-Samar, Zeynep
- Vetro, Annalisa
- De Bellescize, Julitta
- Pisano, Tiziana
- Monteiro, Laloe
- Penaud, NoƩmie
- 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
- Joset, Pascal
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Gokce-Samar, Z., Vetro, A., De Bellescize, J., Pisano, T., Monteiro, L., Penaud, N., Korff, C. M., Fluss, J., Marini, C., Cesaroni, E., Alvarez, B. M., Sanlaville, D., Chatron, N., Arzimanoglou, A. A., Labalme, A., Cuddapah, V. A., Ruggiero, S. M., Lecoquierre, F., Nicolas, G., ā¦ et al. (2024). Molecular and Phenotypic Characterization of the RORB-Related Disorder. Neurology, 102, e207945. https://doi.org/10.1212/wnl.0000000000207945
