Whole-genome linkage scan for epilepsy-related photosensitivity: A mega-analysis

Yazar
Leu, C.
de Kovel, C. G. F.
Pinto, D.
Tauer, U.
Lorenz, S.
Muhle, H.
Neubauer, B. A.
Hempelmann, A.
Callenbach, P. M. C.
Scheffer, I. E.
Berkovic, S. F.
Rudolf, G.
Striano, P.
Siren, A.
Sander, T.
Lindhout, D.
Trenite, D. G. Kasteleijn-Nolst
Stephani, U.
Koeleman, B. P. C.
Baykan, BETÜL
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Özet
Photoparoxysmal response (PPR) is considered to be a risk factor for idiopathic generalised epilepsy (IGE) and it has a strong genetic basis. Two genome-wide linkage studies have been published before and they identified loci for PPR at 6p21, 7q32, 13q13, 13q31 and 16p13. Here we combine these studies, augmented with additional families, in a mega-analysis of 100 families. Non-parametric linkage analysis identified three suggestive peaks for photosensitivity, two of which are novel (5q35.3 and 8q21.13) and one has been found before (16p13.3). We found no evidence for linkage at four previously detected loci (6p21, 7q32, 13q13 and 13q31).
Bağlantı
http://hdl.handle.net/20.500.12627/99206
https://doi.org/10.1016/j.eplepsyres.2010.01.013
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