Genetic linkage analysis of a large family with photoparoxysmal response

Epilepsy Res. 2012 Mar;99(1-2):38-45. doi: 10.1016/j.eplepsyres.2011.10.013. Epub 2011 Nov 8.

Abstract

In this study, we report the results of a genetic linkage analysis of a large family with photoparoxysmal response, defined by the presence of a photoparoxysmal response (PPR) on EEG. The participants were genotyped using an 8 cM whole genome wide scan, and both parametric and non-parametric linkage analysis were carried out. The parametric analysis by MLINK did not identify any definite conclusion but a region of interest on chromosome 1 near marker D1S2865; and non-parametric linkage analysis found a locus of interest on chromosome 16, near marker D16S2621. The possible confounding factors for, and pathogenic implication of, and the results are discussed.

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Child
  • Chromosomes, Human, Pair 1 / genetics
  • Chromosomes, Human, Pair 16 / genetics
  • Electroencephalography / methods*
  • Evoked Potentials, Visual / genetics*
  • Female
  • Genetic Linkage*
  • Humans
  • Male
  • Middle Aged
  • Pedigree
  • Photic Stimulation*
  • Young Adult