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 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 89
  • Publication Date: 2010
  • Doi Number: 10.1016/j.eplepsyres.2010.01.013
  • Title of Journal : EPILEPSY RESEARCH
  • Page Numbers: pp.286-294

Abstract

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).