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

被引：33

作者：

de Kovel, C. G. F. ^{[1
]}

Pinto, D. ^{[2
,3
,4
]}

Tauer, U. ^{[14
]}

Lorenz, S. ^{[12
,19
,20
]}

Muhle, H. ^{[10
]}

Leu, C. ^{[5
]}

Neubauer, B. A. ^{[7
]}

Hempelmann, A. ^{[12
]}

Callenbach, P. M. C. ^{[13
]}

Scheffer, I. E. ^{[8
,9
]}

Berkovic, S. F. ^{[8
,9
]}

Rudolf, G. ^{[11
]}

Striano, P. ^{[18
]}

Siren, A. ^{[15
]}

Baykan, B. ^{[16
,17
]}

Sander, T. ^{[5
,6
,12
]}

Lindhout, D.

Trenite, D. G. Kasteleijn-Nolst

Stephani, U. ^{[10
]}

Koeleman, B. P. C.

机构：

[1] Univ Med Ctr Utrecht, Div Biomed Genet, Complex Genet Grp, NL-3508 AB Utrecht, Netherlands

[2] Univ Toronto, Hosp Sick Children, Ctr Appl Genom, Toronto, ON M5G 1X8, Canada

[3] Univ Toronto, Hosp Sick Children, Program Genet & Genom Biol, Toronto, ON M5G 1X8, Canada

[4] Univ Toronto, Dept Mol & Med Genet, Toronto, ON M5G 1X8, Canada

[5] Univ Cologne, Cologne Ctr Genom, Cologne, Germany

[6] Humboldt Univ, Charite Univ Med, Dept Neurol, Berlin, Germany

[7] Univ Giessen, Clin Neuropediat, D-35390 Giessen, Germany

[8] Univ Melbourne, Austin Hlth, Dept Med, Melbourne, Vic, Australia

[9] Univ Melbourne, Royal Childrens Hosp, Dept Paediat, Melbourne, Vic, Australia

[10] Univ Kiel, Dept Neuropediat, Kiel, Germany

[11] Hop Univ Strasbourg, Neurol Clin, Strasbourg, France

[12] Max Delbruck Ctr Mol Med, Berlin, Germany

[13] Univ Groningen, Univ Med Ctr Groningen, Dept Neurol, Groningen, Netherlands

[14] Kinderklin Schwabing, Munich, Germany

[15] Univ Helsinki, Folkhalsom Inst Genet, Ctr Neurosci, Helsinki, Finland

[16] Istanbul Univ, Istanbul Fac Med, Deportment Neurol, Istanbul, Turkey

[17] Istanbul Univ, Dept Genet, Expt Med Res Inst, Istanbul, Turkey

[18] Inst G Gaslini, Muscular & Neurodegenerat Dis Unit, Genoa, Italy

[19] Norwegian Univ Life Sci, UMB, Aas, Germany

[20] CIGENE Ctr Integrat Genet, Aas, Germany

来源：

EPILEPSY RESEARCH | 2010年 / 89卷 / 2-3期

关键词：

Genome-wide linkage; Mega-analysis; Idiopathic generalised epilepsy; Photoparoxysmal response; Photosensitivity; IDIOPATHIC GENERALIZED EPILEPSIES; PHOTOPAROXYSMAL RESPONSE; GENETIC DISSECTION; SEIZURES; 16P13; TWINS; 7Q32; LOCI;

D O I：

10.1016/j.eplepsyres.2010.01.013

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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). Our results suggest that the different family data sets are not linked to a shared locus. Detailed analysis showed that the peak at 16p13 was mainly supported by a single subset of families, while the peaks at 5q35 and 8q21 had weak support from multiple subsets. Family studies clearly support the role of PPR as a risk factor for IGE. This mega-analysis shows that distinct loci seem to be linked to subsets of PPR-positive families that may differ in subtle clinical phenotypes or geographic origin. Further linkage studies of PPR should therefore include in-depth phenotyping to make appropriate subsets and increase genetic homogeneity. (C) 2010 Elsevier B.V. All rights reserved.

引用

页码：286 / 294

页数：9

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