Muhle, Hiltrud, Steinich, Ines, von Spiczak, Sarah, Franke, Andre ORCID: 0000-0003-1530-5811, Weber, Yvonne, Lerche, Holger, Wittig, Michael, Heidemann, Simone, Suls, Arvid ORCID: 0000-0003-0328-198X, de Jonghe, Peter, Marini, Carla, Guerrini, Renzo ORCID: 0000-0002-7272-7079, Scheffer, Ingrid E., Berkovic, Samuel F., Stephani, Ulrich, Siebert, Reiner, Sander, Thomas, Helbig, Ingo ORCID: 0000-0001-8486-0558 and Toennies, Holger (2010). A duplication in 1q21.3 in a family with early onset and childhood absence epilepsy. Epilepsia, 51 (12). S. 2453 - 2457. MALDEN: WILEY-BLACKWELL PUBLISHING, INC. ISSN 0013-9580

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Abstract

P>Early onset absence epilepsy (EOAE) starting before the age of 4 years constitutes a rare subgroup of the idiopathic generalized epilepsies (IGEs). A strong genetic component in IGE has been suggested by twin and family studies. We describe a boy with absence seizures starting at the age of 9 months whose parents both had childhood absence epilepsy. A 192-kb duplication in 1q21.3 was identified in the proband and his father, encompassing the gene CHRNB2 coding for the beta-2 subunit of the nicotinic acetylcholine receptor and the gene ADAR coding for adenosine deaminase, an enzyme responsible for RNA editing. Both are candidate genes for seizure disorders. The duplication was not identified in 191 independent IGE patients (93 EOAE; 98 classical IGE) or in 1,157 population controls.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Muhle, HiltrudUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Steinich, InesUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
von Spiczak, SarahUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Franke, AndreUNSPECIFIEDorcid.org/0000-0003-1530-5811UNSPECIFIED
Weber, YvonneUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lerche, HolgerUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wittig, MichaelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Heidemann, SimoneUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Suls, ArvidUNSPECIFIEDorcid.org/0000-0003-0328-198XUNSPECIFIED
de Jonghe, PeterUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Marini, CarlaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Guerrini, RenzoUNSPECIFIEDorcid.org/0000-0002-7272-7079UNSPECIFIED
Scheffer, Ingrid E.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Berkovic, Samuel F.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Stephani, UlrichUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Siebert, ReinerUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sander, ThomasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Helbig, IngoUNSPECIFIEDorcid.org/0000-0001-8486-0558UNSPECIFIED
Toennies, HolgerUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-491368
DOI: 10.1111/j.1528-1167.2010.02712.x
Journal or Publication Title: Epilepsia
Volume: 51
Number: 12
Page Range: S. 2453 - 2457
Date: 2010
Publisher: WILEY-BLACKWELL PUBLISHING, INC
Place of Publication: MALDEN
ISSN: 0013-9580
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
NERVOUS-SYSTEM; MICRODELETIONS; TARGETS; SUBUNIT; MUTANTMultiple languages
Clinical NeurologyMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/49136

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