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Type: Journal article
Title: Is photosensitive epilepsy less common in males due to variation in X chromosome photopigment genes?
Author: Taylor, I.
Hodgson, B.
Scheffer, I.
Mulley, J.
Berkovic, S.
Dibbens, L.
Citation: Epilepsia, 2007; 48(9):1807-1809
Publisher: Blackwell Publishing Inc
Issue Date: 2007
ISSN: 0013-9580
Statement of
Isabella Taylor, Bree Hodgson, Ingrid E. Scheffer, John Mulley, Samuel F. Berkovic, Leanne Dibbens
Abstract: Summary: Photosensitive epilepsy is less frequent among males than females. Red is the most epileptogenic color. The X-linked red pigment gene contains the polymorphism Ser180Ala; the Ser180 allele increases red sensitivity. We hypothesized that the paucity of males with photosensitive epilepsy is explained by the distribution of this sex-linked allele, and predicted photosensitive males would have a low frequency of this allele. We genotyped 35 males with photosensitive epilepsy and 84 male controls. Allele frequencies did not differ between these groups. The hypothesis was not supported, so alternate reasons for the sex bias in photosensitive epilepsy must be sought.
Keywords: Chromosomes, Human, X; Humans; Epilepsy, Reflex; Genetic Predisposition to Disease; Retinal Pigments; Electroencephalography; Sex Factors; Sex Characteristics; Gene Frequency; Genotype; Polymorphism, Genetic; Australia; Male; Genes, X-Linked; Genetic Variation; Retinal Cone Photoreceptor Cells
Description: The definitive version is available at
RMID: 0020072405
DOI: 10.1111/j.1528-1167.2007.01138.x
Appears in Collections:Molecular and Biomedical Science publications

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