Journal article
Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy
G Rudolf, G Lesca, MM Mehrjouy, A Labalme, M Salmi, I Bache, N Bruneau, M Pendziwiat, J Fluss, J De Bellescize, J Scholly, RS Møller, D Craiu, N Tommerup, MP Valenti-Hirsch, C Schluth-Bolard, F Sloan-Béna, KL Helbig, S Weckhuysen, P Edery Show all
European Journal of Human Genetics | NATURE PUBLISHING GROUP | Published : 2016
DOI: 10.1038/ejhg.2016.80
Abstract
Genetic generalized epilepsy (GGE), formerly known as idiopathic generalized epilepsy, is the most common form of epilepsy and is thought to have predominant genetic etiology. GGE are clinically characterized by absence, myoclonic, or generalized tonic-clonic seizures with electroencephalographic pattern of bilateral, synchronous, and symmetrical spike-and-wave discharges. Despite their strong heritability, the genetic basis of generalized epilepsies remains largely elusive. Nevertheless, recent advances in genetic technology have led to the identification of numerous genes and genomic defects in various types of epilepsies in the past few years. In the present study, we performed whole-exom..
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Awarded by National Institute of Child Health and Human Development
Funding Acknowledgements
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).