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Publication Detail
Genetic linkage analysis of a large family with photoparoxysmal response.
  • Publication Type:
    Journal article
  • Publication Sub Type:
    Journal Article
  • Authors:
    Lo C, Shorvon S, Davis M, Houlden H, Gibbons V, Wood N
  • Publication date:
  • Pagination:
    38, 45
  • Journal:
    Epilepsy Res
  • Volume:
  • Issue:
  • Status:
  • Country:
  • PII:
  • Language:
  • Keywords:
    Adolescent, Adult, Aged, Child, Chromosomes, Human, Pair 1, Chromosomes, Human, Pair 16, Electroencephalography, Evoked Potentials, Visual, Female, Genetic Linkage, Humans, Male, Middle Aged, Pedigree, Photic Stimulation, Young Adult
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.
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