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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. Copyright © 2011 Elsevier B.V. All rights reserved.


Chiening Lo, Simon Shorvon, Mary Davis, Henry Houlden, Vaneesha Gibbons, Nick Wood. Genetic linkage analysis of a large family with photoparoxysmal response. Epilepsy research. 2012 Mar;99(1-2):38-45

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PMID: 22071551

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