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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:
    03/2012
  • Pagination:
    38, 45
  • Journal:
    Epilepsy Res
  • Volume:
    99
  • Issue:
    1-2
  • Status:
    Published
  • Country:
    Netherlands
  • PII:
    S0920-1211(11)00320-2
  • Language:
    eng
  • 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
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.
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Author
Department of Neuromuscular Diseases
Author
Clinical & Experimental Epilepsy
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