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Type: Journal article
Title: Exploration of the genetic architecture of idiopathic generalized epilepsies
Author: Hempelmann, A.
Taylor, K.
Heils, A.
Lorenz, S.
Prud'Homme, J.
Nabbout, R.
Dulac, O.
Rudolf, G.
Zara, F.
Bianchi, A.
Robinson, R.
Gardiner, R.
Covanis, A.
Lindhout, D.
Stephani, U.
Elger, C.
Weber, Y.
Lerche, H.
Nurnberg, P.
Kron, K.
et al.
Citation: Epilepsia, 2006; 47(10):1682-1690
Publisher: Blackwell Publishing Inc
Issue Date: 2006
ISSN: 0013-9580
Statement of
Anne Hempelmann, Kirsten P. Taylor, Armin Heils, Susanne Lorenz, Jean-Francois Prud’Homme, Rima Nabbout, Olivier Dulac, Gabrielle Rudolf, Federico Zara, Amedeo Bianchi, Robert Robinson, R. Mark Gardiner, Athanasios Covanis, Dick Lindhout, Ulrich Stephani, Christian E. Elger, Yvonne G. Weber, Holger Lerche, Peter Nürnberg, Katherine L. Kron, Ingrid E. Scheffer, John C. Mulley, Samuel F. Berkovic, and Thomas Sander
Abstract: Idiopathic generalized epilepsy (IGE) accounts for approximately 20% of all epilepsies and affects about 0.2% of the general population. The etiology of IGE is genetically determined, but the complex pattern of inheritance suggests an involvement of a large number of susceptibility genes. The objective of the present study was to explore the genetic architecture of common IGE syndromes and to dissect out susceptibility loci predisposing to absence or myoclonic seizures.Genome-wide linkage scans were performed in 126 IGE-multiplex families of European origin ascertained through a proband with idiopathic absence epilepsy or juvenile myoclonic epilepsy. Each family had at least two siblings affected by IGE. To search for seizure type-related susceptibility loci, linkage analyses were carried out in family subgroups segregating either typical absence seizures or myoclonic and generalized tonic-clonic seizures on awakening.Nonparametric linkage scans revealed evidence for complex and heterogeneous genetic architectures involving linkage signals at 5q34, 6p12, 11q13, 13q22-q31, and 19q13. The signal patterns differed in their composition, depending on the predominant seizure type in the families.Our results are consistent with heterogeneous configurations of susceptibility loci associated with different IGE subtypes. Genetic determinants on 11q13 and 13q22-q31 seem to predispose preferentially to absence seizures, whereas loci on 5q34, 6p12, and 19q13 confer susceptibility to myoclonic and generalized tonic-clonic seizures on awakening.
Keywords: idiopathic generalized epilepsy; complex inheritance; absence seizure; myoclonic seizure; linkage
Description: Copyright © 2006 International League Against Epilepsy
Provenance: Published Online: 20 Sep 2006
RMID: 0020061522
DOI: 10.1111/j.1528-1167.2006.00677.x
Appears in Collections:Molecular and Biomedical Science publications

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