title: Genetic linkage analysis of a large family with photoparoxysmal response.
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.
authors.affiliation: UCL, Institute of Neurology, Department of Clinical and Experimental Epilepsy, Queen Square WC1N 3BG, United Kingdom. c.lo@ion.ucl.ac.uk
authors.forename: Chiening
authors.initials: C
authors.lastname: Lo
authors.forename: Simon
authors.initials: S
authors.lastname: Shorvon
authors.forename: Mary
authors.initials: M
authors.lastname: Davis
authors.forename: Henry
authors.initials: H
authors.lastname: Houlden
authors.forename: Vaneesha
authors.initials: V
authors.lastname: Gibbons
authors.forename: Nick
authors.initials: N
authors.lastname: Wood
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics; D004569:Electroencephalography / Q000379:methods*; D005074:Evoked Potentials, Visual / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010775:Photic Stimulation; D055815:Young Adult