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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.* ; Nürnberg, P.* ; Mefford, H.C.* ; Scheffer, I.E.* ; Berkovic, S.F.* ; Beckmann, J.S.* ; EPICURE Consortium (Reymond, A.*) ; EuroEPINOMICS Consortium (Zimprich, F.*) ; Sander, T.* ; Jacquemont, S.* ; Neubauer, B.A.*

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

Hum. Mol. Genet. 23, 6069-6080 (2014)
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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 CNVs 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 65046 European population controls (5/393 cases vs 32/65046 controls; Fisher's exact test P=2.83 x 10(-6), OR=26.2, 95% CI: 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 x 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 Rolandic epilepsy.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Sprache englisch
Veröffentlichungsjahr 2014
HGF-Berichtsjahr 2014
ISSN (print) / ISBN 0964-6906
e-ISSN 1460-2083
Zeitschrift Human Molecular Genetics
Quellenangaben Band: 23, Heft: 22, Seiten: 6069-6080 Artikelnummer: , Supplement: ,
Verlag Oxford University Press
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Genetic Epidemiology (IGE)
Institute of Epidemiology (EPI)
POF Topic(s) 30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
30202 - Environmental Health
Forschungsfeld(er) Genetics and Epidemiology
PSP-Element(e) G-504100-001
G-504091-001
PubMed ID 24939913
DOI 10.1093/hmg/ddu306
WOS ID WOS:000344671900019
Scopus ID 84911395683
Erfassungsdatum 2014-06-20
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