15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

被引：436

作者：

Helbig, Ingo

Mefford, Heather C. ^{[1
]}

Sharp, Andrew J. ^{[2
,3
]}

Guipponi, Michel ^{[2
,3
]}

Fichera, Marco ^{[4
]}

Franke, Andre

Muhle, Hiltrud

de Kovel, Carolien

Baker, Carl ^{[1
]}

von Spiczak, Sarah

Kron, Katherine L.

Steinich, Ines

Kleefuss-Lie, Ailing A.

Leu, Costin

Gaus, Verena

Schmitz, Bettina

Klein, Karl M.

Reif, Philipp S.

Rosenow, Felix

Weber, Yvonne

Lerche, Holger

Zimprich, Fritz

Urak, Lydia

Fuchs, Karoline

Feucht, Martha

Genton, Pierre ^{[5
]}

Thomas, Pierre ^{[6
]}

Visscher, Frank

de Haan, Gerrit-Jan

Moller, Rikke S.

Hjalgrim, Helle

Luciano, Daniela ^{[4
]}

Wittig, Michael

Nothnagel, Michael

Elger, Christian E.

Nuernberg, Peter

Romano, Corrado ^{[4
]}

Malafosse, Alain ^{[2
,3
]}

Koeleman, Bobby P. C.

Lindhout, Dick

Stephani, Ulrich

Schreiber, Stefan

Eichler, Evan E. ^{[1
,7
]}

Sander, Thomas

机构：

[1] Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA

[2] Univ Geneva, Sch Med, Dept Genet Med & Dev, CH-1211 Geneva, Switzerland

[3] Univ Hosp Geneva, CH-1211 Geneva, Switzerland

[4] IRCCS Associaz Oasi Maria Santissima, I-94018 Troina, Italy

[5] Ctr St Paul Hop Henri Gastaut, F-13258 Marseille 09, France

[6] Hop Louis Pasteur, Unite Fonctionnelle EEG Epileptol, Serv Neurol, F-06002 Nice 01, France

[7] Univ Washington, Howard Hughes Med Inst, Seattle, WA 98195 USA

来源：

NATURE GENETICS | 2009年 / 41卷 / 02期

基金：

新加坡国家研究基金会;

关键词：

SCHIZOPHRENIA; SEIZURES;

D O I：

10.1038/ng.292

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学];

摘要：

We identified 15q13.3 microdeletions encompassing the CHRNA7 gene in 12 of 1,223 individuals with idiopathic generalized epilepsy (IGE), which were not detected in 3,699 controls (joint P = 5.32 x 10(-8)). Most deletion carriers showed common IGE syndromes without other features previously associated with 15q13.3 microdeletions, such as intellectual disability, autism or schizophrenia. Our results indicate that 15q13.3 microdeletions constitute the most prevalent risk factor for common epilepsies identified to date.

引用

页码：160 / 162

页数：3

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