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

de Kovel C. G. F., Pinto D., Tauer U., Lorenz S., Muhle H., Leu C., ...More

EPILEPSY RESEARCH, vol.89, pp.286-294, 2010 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 89
  • Publication Date: 2010
  • Doi Number: 10.1016/j.eplepsyres.2010.01.013
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.286-294
  • Keywords: Genome-wide linkage, Mega-analysis, Idiopathic generalised epilepsy, Photoparoxysmal response, Photosensitivity, IDIOPATHIC GENERALIZED EPILEPSIES, PHOTOPAROXYSMAL RESPONSE, GENETIC DISSECTION, SEIZURES, 16P13, TWINS, 7Q32, LOCI
  • Istanbul University Affiliated: Yes


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).