Journal article
Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: Precedent for disorders with complex inheritance
LM Dibbens, S Mullen, I Helbig, HC Mefford, MA Bayly, S Bellows, C Leu, H Trucks, T Obermeier, M Wittig, A Franke, H Caglayan, Z Yapici, T Sander, EE Eichler, IE Scheffer, JC Mulley, SF Berkovic, P De Jonghe, A Suls Show all
Human Molecular Genetics | Published : 2009
DOI: 10.1093/hmg/ddp311
Abstract
Microdeletion at chromosomal position 15q13.3 has been described in intellectual disability, autism spectrum disorders, schizophrenia and recently in idiopathic generalized epilepsy (IGE). Using independent IGE cohorts, we first aimed to confirm the association of 15q13.3 deletions and IGE. We then set out to determine the relative occurrence of sporadic and familial cases and to examine the likelihood of having seizures for individuals with the microdeletion in familial cases. The 15q13.3 microdeletion was identified in 7 of 539 (1.3%) unrelated cases of IGE using quantitative PCR or SNP arrays and confirmed by array comparative genomic hybridization analysis using probes specific to the 15..
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Awarded by National Institute of Child Health and Human Development
Funding Acknowledgements
This work was supported by the National Health and Medical Research Council of Australia; SA Pathology; Thyne Reid Charitable Trusts; The European Community [FP6 Integrated Project EPICURE, LSHM-CT-2006-037315]; the German Ministry of Education and Research (NGFNplus, EMINet); The Netherlands National Epilepsy Fund, and The Netherlands Organization for Scientific Research.