Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy
Gabrielle Rudolf, Gaetan Lesca, Mana M Mehrjouy, Audrey Labalme, Manal Salmi, Iben Bache, Nadine Bruneau, Manuela Pendziwiat, Joel Fluss, Julitta de Bellescize, Julia Scholly, Rikke S Moller, Dana Craiu, Niels Tommerup, Maria Paola Valenti-Hirsch, Caroline Schluth-Bolard, Frederique Sloan-Bena, Katherine L Helbig, Sarah Weckhuysen, Patrick Edery Show all
European Journal of Human Genetics | NATURE PUBLISHING GROUP | Published : 2016
Awarded by ANR (Agence Nationale de la Recherche) grant 'EPILAND'
Awarded by European Union Seventh Framework Programme FP7
Awarded by Lundbeck Foundation
Awarded by Danish Council for Independent Research - Medical Sciences
We thank all the patients and families who participated in the study. We thank Professor Jamel Chelly for helpful discussion and comments and Raphaelle Lamy for expert technical assistance. Assistance from the Biological Resource Centre, Hospices Civils, Lyon, France and from the Banque de Genome, Hopital de Brabois, Vandoeuvre-les-Nancy, France was greatly appreciated. We also thank Tine Deconinck and Tania Djemie for development and analysis of the MAQ assay. We also thank Dr Goedele Malfroid for helpful information for the patient EC-CAE300. This work was supported by a generous grant from UCB-Pharma France, by ANR (Agence Nationale de la Recherche) grant 'EPILAND' (ANR-2010-BLAN-1405 01) with EuroBiomed label, by the European Union Seventh Framework Programme FP7/2007-2013 under the project DESIRE (grant agreement no. 602531), by INSERM, by 'Young Hospital Researcher' 2007 grant from Hospices Civils de Lyon, by the Lundbeck Foundation (2013-14290), the UCPH Programme for Interdisciplinary Research (Global Genes, Local Concerns), and The Danish Council for Independent Research - Medical Sciences (4183-00482B).