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Genetic dissection of photosensitivity and its relation to idiopathic generalized epilepsy
Author(s) -
Tauer Ulrike,
Lorenz Susanne,
Lenzen Kirsten P.,
Heils Armin,
Muhle Hiltrud,
Gresch Meike,
Neubauer Bernd A.,
Waltz Stephan,
Rudolf Gabrielle,
Mattheisen Manuel,
Strauch Konstantin,
Nürnberg Peter,
Schmitz Bettina,
Stephani Ulrich,
Sander Thomas
Publication year - 2005
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.20500
Subject(s) - idiopathic generalized epilepsy , genetic linkage , locus (genetics) , trait , genetics , linkage (software) , immunoglobulin e , lod score , biology , medicine , epilepsy , gene mapping , gene , chromosome , neuroscience , computer science , antibody , programming language
Photosensitivity or photoparoxysmal response (PPR) is a common and highly heritable electroencephalographic trait characterized by an abnormal visual sensitivity of the brain in reaction to intermittent photic stimulation. PPR occurs frequently associated with idiopathic generalized epilepsies (IGEs). The present genomewide linkage scan was designed to map susceptibility loci for PPR and to explore their genetic relationship with IGE. The study included 60 families with at least two siblings displaying PPR. To dissect PPR‐specific and IGE‐related susceptibility loci, we defined two distinct family subgroups, comprising 19 families with predominantly pure PPR and photosensitive seizures ( PPR‐families ) and 25 families, in which PPR was strongly associated with IGE ( PPR/IGE‐families ). MOD score analyses provided significant evidence for linkage to the region 6p21.2 in the PPR‐families (empirical p = 0.00004) and suggestive evidence for linkage to the region 13q31.3 in the PPR/IGE families ( p = 0.00015), both with a best‐fitting recessive mode of inheritance. In the PPR/IGE‐families , linkage evidence was even stronger ( p = 0.00003) when the trait definition was broadened by IGE traits. Our study shows two PPR‐related susceptibility loci, depending on the familial background of IGE. The locus on 6p21.2 seems to predispose to PPR itself, whereas the locus on 13q31.3 also confers susceptibility to IGE. Ann Neurol 2005;57:866–873