16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy.

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Version: author
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Serval ID
serval:BIB_30D0F629E19F
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy.
Journal
Human Molecular Genetics
Author(s)
Reinthaler E.M., Lal D., Lebon S., Hildebrand M.S., Dahl H.H., Regan B.M., Feucht M., Steinböck H., Neophytou B., Ronen G.M., Roche L., Gruber-Sedlmayr U., Geldner J., Haberlandt E., Hoffmann P., Herms S., Gieger C., Waldenberger M., Franke A., Wittig M., Schoch S., Becker A.J., Hahn A., Männik K., Toliat M.R., Winterer G., Lerche H., Lerche H., Nürnberg P., Mefford H., Scheffer I.E., Berkovic S.F., Beckmann J.S., Sander T., Sander T., Jacquemont S., Reymond A., Zimprich F., Neubauer B.A.
Working group(s)
16p11.2 European Consortium, EPICURE Consortium, EuroEPINOMICS Consortium
Contributor(s)
Reinthaler EM., Zimprich F., Feucht M., Steinböck H., Neophytou B., Geldner J., Gruber-Sedlmayr U., Haberlandt E., Ronen GM., Roche L., Lal D., Nürnberg P., Sander T., Lerche H., Neubauer B., Zimprich F., Mörzinger M., Feucht M., Suls A., Weckhuysen S., Claes L., Deprez L., Smets K., Van Dyck T., Deconinck T., De Jonghe P., Møller RS., Klitten LL., Hjalgrim H., Møller RS., Campus K., Helbig I., Muhle H., Ostertag P., von Spiczak S., Stephani U., Nürnberg P., Sander T., Trucks H., Elger CE., Kleefuß-Lie AA., Kunz WS., Surges R., Gaus V., Janz D., Sander T., Schmitz B., Rosenow F., Klein KM., Reif PS., Oertel WH., Hamer HM., Becker F., Weber Y., Lerche H., Koeleman BP., de Kovel C., Lindhout D., Lindhout D., Ameil A., Andrieux J., Bouquillon S., Boute O., Cordier MP., Cuisset JM., Cuvellier JC., David A., de Vries B., Delrue MA., Doco-Fenzy M., Fernandez BA., Heron D., Keren B., Lebel R., Leheup B., Lewis S., Mencarelli MA., Mignot C., Minet JC., Moerman A., Morice-Picard F., Mucciolo M., Ounap K., Pasquier L., Petit F., Ragona F., Rajcan-Separovic E., Renieri A., Rieubland C., Sanlaville D., Sarrazin E., Shen Y., van Haelst M., Vulto-van Silfhout A.
ISSN
1460-2083 (Electronic)
ISSN-L
0964-6906
Publication state
Published
Issued date
2014
Peer-reviewed
Oui
Volume
23
Number
22
Pages
6069-6080
Language
english
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't Publication Status: ppublish
Abstract
Rolandic epilepsy (RE) is the most common idiopathic focal childhood epilepsy. Its molecular basis is largely unknown and a complex genetic etiology is assumed in the majority of affected individuals. The present study tested whether six large recurrent copy number variants at 1q21, 15q11.2, 15q13.3, 16p11.2, 16p13.11 and 22q11.2 previously associated with neurodevelopmental disorders also increase risk of RE. Our association analyses revealed a significant excess of the 600 kb genomic duplication at the 16p11.2 locus (chr16: 29.5-30.1 Mb) in 393 unrelated patients with typical (n = 339) and atypical (ARE; n = 54) RE compared with the prevalence in 65,046 European population controls (5/393 cases versus 32/65,046 controls; Fisher's exact test P = 2.83 × 10(-6), odds ratio = 26.2, 95% confidence interval: 7.9-68.2). In contrast, the 16p11.2 duplication was not detected in 1738 European epilepsy patients with either temporal lobe epilepsy (n = 330) and genetic generalized epilepsies (n = 1408), suggesting a selective enrichment of the 16p11.2 duplication in idiopathic focal childhood epilepsies (Fisher's exact test P = 2.1 × 10(-4)). In a subsequent screen among children carrying the 16p11.2 600 kb rearrangement we identified three patients with RE-spectrum epilepsies in 117 duplication carriers (2.6%) but none in 202 carriers of the reciprocal deletion. Our results suggest that the 16p11.2 duplication represents a significant genetic risk factor for typical and atypical RE.
Pubmed
Web of science
Open Access
Yes
Create date
11/12/2014 19:04
Last modification date
25/09/2019 7:08
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