Reinthaler, Eva M., Lal, Dennis, Lebon, Sebastien, Hildebrand, Michael S., Dahl, Hans-Henrik M., Regan, Brigid M., Feucht, Martha, Steinboeck, Hannelore, Neophytou, Birgit, Ronen, Gabriel M., Roche, Laurian, Gruber-Sedlmayr, Ursula, Geldner, Julia, Haberlandt, Edda, Hoffmann, Per, Herms, Stefan ORCID: 0000-0002-2786-8200, Gieger, Christian ORCID: 0000-0001-6986-9554, Waldenberger, Melanie ORCID: 0000-0003-0583-5093, Franke, Andre ORCID: 0000-0003-1530-5811, Wittig, Michael, Schoch, Susanne, Becker, Albert J., Hahn, Andreas, Maennik, Katrin, Toliat, Mohammad R., Winterer, Georg, Lerche, Holger, Nuernberg, Peter, Mefford, Heather, Scheffer, Ingrid E., Berkovic, Samuel F., Beckmann, Jacques S., Sander, Thomas, Jacquemont, Sebastien, Reymond, Alexandre, Zimprich, Fritz ORCID: 0000-0002-6998-5480 and Neubauer, Bernd A. (2014). 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy. Hum. Mol. Genet., 23 (22). S. 6069 - 6081. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2083

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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 x 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 3 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.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Reinthaler, Eva M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lal, DennisUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lebon, SebastienUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hildebrand, Michael S.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Dahl, Hans-Henrik M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Regan, Brigid M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Feucht, MarthaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Steinboeck, HanneloreUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Neophytou, BirgitUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ronen, Gabriel M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Roche, LaurianUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gruber-Sedlmayr, UrsulaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Geldner, JuliaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Haberlandt, EddaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hoffmann, PerUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Herms, StefanUNSPECIFIEDorcid.org/0000-0002-2786-8200UNSPECIFIED
Gieger, ChristianUNSPECIFIEDorcid.org/0000-0001-6986-9554UNSPECIFIED
Waldenberger, MelanieUNSPECIFIEDorcid.org/0000-0003-0583-5093UNSPECIFIED
Franke, AndreUNSPECIFIEDorcid.org/0000-0003-1530-5811UNSPECIFIED
Wittig, MichaelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schoch, SusanneUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Becker, Albert J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hahn, AndreasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Maennik, KatrinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Toliat, Mohammad R.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Winterer, GeorgUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lerche, HolgerUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nuernberg, PeterUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mefford, HeatherUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Scheffer, Ingrid E.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Berkovic, Samuel F.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Beckmann, Jacques S.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sander, ThomasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Jacquemont, SebastienUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Reymond, AlexandreUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Zimprich, FritzUNSPECIFIEDorcid.org/0000-0002-6998-5480UNSPECIFIED
Neubauer, Bernd A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-423290
DOI: 10.1093/hmg/ddu306
Journal or Publication Title: Hum. Mol. Genet.
Volume: 23
Number: 22
Page Range: S. 6069 - 6081
Date: 2014
Publisher: OXFORD UNIV PRESS
Place of Publication: OXFORD
ISSN: 1460-2083
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
BENIGN PARTIAL EPILEPSY; AUTISM SPECTRUM DISORDERS; PSEUDO-LENNOX-SYNDROME; CHILDHOOD EPILEPSY; FOCAL EPILEPSY; RECURRENT MICRODELETIONS; 15Q13.3 MICRODELETIONS; CENTROTEMPORAL SPIKES; 16P13.11 PREDISPOSE; GRIN2A MUTATIONSMultiple languages
Biochemistry & Molecular Biology; Genetics & HeredityMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/42329

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