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

de Kovel, C.; Pinto, D.; Tauer, U.; Lorenz, S.; Muhle, H.; Leu, C.; Neubauer, B.; Hempelmann, A.; Callenbach, P.; Scheffer, I.; Berkovic, S.; Rudolf, G.; Striano, P.; Siren, A.; Baykan, Betül; Sander, T.; Lindhout, D.; Trenite, D.; Stephani, U.; Koeleman, B.

doi:10.1016/j.eplepsyres.2010.01.013

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

Atıf İçin Kopyala

de Kovel C. G. F., Pinto D., Tauer U., Lorenz S., Muhle H., Leu C., ...Daha Fazla

EPILEPSY RESEARCH, cilt.89, ss.286-294, 2010 (SCI-Expanded)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 89
Basım Tarihi: 2010
Doi Numarası: 10.1016/j.eplepsyres.2010.01.013
Dergi Adı: EPILEPSY RESEARCH
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.286-294
Anahtar Kelimeler: Genome-wide linkage, Mega-analysis, Idiopathic generalised epilepsy, Photoparoxysmal response, Photosensitivity, IDIOPATHIC GENERALIZED EPILEPSIES, PHOTOPAROXYSMAL RESPONSE, GENETIC DISSECTION, SEIZURES, 16P13, TWINS, 7Q32, LOCI
İstanbul Üniversitesi Adresli: Evet

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).