Journal article

Whole-genome linkage scan for epilepsy-related photosensitivity: A mega-analysis

CGF de Kovel, D Pinto, U Tauer, S Lorenz, H Muhle, C Leu, BA Neubauer, A Hempelmann, PMC Callenbach, IE Scheffer, SF Berkovic, G Rudolf, P Striano, A Siren, B Baykan, T Sander, D Lindhout, DG Kasteleijn-Nolst Trenite, U Stephani, BPC Koeleman



Photoparoxysmal response (PPR) is considered to be a risk factor for idiopathic generalised epilepsy (IGE) and it has a strong genetic basis. Two genome-wide linkage studies have been published before and they identified loci for PPR at 6p21, 7q32, 13q13, 13q31 and 16p13. Here we combine these studies, augmented with additional families, in a mega-analysis of 100 families. Non-parametric linkage analysis identified three suggestive peaks for photosensitivity, two of which are novel (5q35.3 and 8q21.13) and one has been found before (16p13.3). We found no evidence for linkage at four previously detected loci (6p21, 7q32, 13q13 and 13q31). Our results suggest that the different family data set..

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Awarded by Netherlands Organisation for Scientific Research

Awarded by Ter Meulen Foundation Fellowship

Awarded by MCT-FCT- the Portuguese Foundation for Science and Technology

Awarded by Netherlands National Epilepsy Fund

Awarded by European Community

Awarded by Deutsche Forschungsgemeinschaft

Awarded by German Federal Ministry of Education and Research

Funding Acknowledgements

We gratefully acknowledge the cooperation of all the patients and families participating in this study. The study was supported by: The Netherlands Organisation for Scientific Research, grant number 917.66.315 to BPCK and CGFdK, and grant number 940.33.030 to PMCC; Ter Meulen Foundation Fellowship (TMF/DA/3397) from the Royal Netherlands Academy of Arts and Sciences (KNAW) and MCT-FCT- the Portuguese Foundation for Science and Technology, grant SFRH/BD/1347/2000 to DP; The Netherlands National Epilepsy Fund, grant number 04-08 to BPCK and grant number 98-14 to PMCC; The European Community by FP6 program 2005-Marie Curie Excellence, grant 024224 to DK-NT and the EPICURE Integrated Project, grant LSHM-CT-2006-037315; the German Research Foundation. Deutsche Forschungsgemeinschaft, grant Sa434/3-1/4-1, and the German Federal Ministry of Education and Research, grant BMBF/NGFNplus: 01GS08120 to PN and TS. US and UT were supported by the Medical Faculty of Kiel University, Germany.