Purpose: Genetic generalized epilepsies (GGEs) have a lifetime prevalence of 0.3% with heritability estimates of 80%. A considerable proportion of families with siblings affected by GGEs presumably display an oligogenic inheritance. The present genome-wide linkage meta-analysis aimed to map: (1) susceptibility loci shared by a broad spectrum of GGEs, and (2) seizure typerelated genetic factors preferentially predisposing to either typical absence or myoclonic seizures, respectively.
Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies / EPICURE Consortium; Leu C; de Kovel CG; Zara F; Striano P; Pezzella M; Robbiano A; Bianchi A; Bisulli F; Coppola A; Giallonardo AT; Beccaria F; Trenité DK; Lindhout D; Gaus V; Schmitz B; Janz D; Weber YG; Becker F; Lerche H; Kleefuß-Lie AA; Hallman K; Kunz WS; Elger CE; Muhle H; Stephani U; Møller RS; Hjalgrim H; Mullen S; Scheffer IE; Berkovic SF; Everett KV; Gardiner MR; Marini C; Guerrini R; Lehesjoki AE; Siren A; Nabbout R; Baulac S; Leguern E; Serratosa JM; Rosenow F; Feucht M; Unterberger I; Covanis A; Suls A; Weckhuysen S; Kaneva R; Caglayan H; Turkdogan D; Baykan B; Bebek N; Ozbek U; Hempelmann A; Schulz H; Rüschendorf F; Trucks H; Nürnberg P; Avanzini G; Koeleman BP; Sander T.. - In: EPILEPSIA. - ISSN 0013-9580. - STAMPA. - 53(2):(2012), pp. 308-318. [10.1111/j.1528-1167.2011.03379.x]
Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies.
Marini C;GUERRINI, RENZO;
2012
Abstract
Purpose: Genetic generalized epilepsies (GGEs) have a lifetime prevalence of 0.3% with heritability estimates of 80%. A considerable proportion of families with siblings affected by GGEs presumably display an oligogenic inheritance. The present genome-wide linkage meta-analysis aimed to map: (1) susceptibility loci shared by a broad spectrum of GGEs, and (2) seizure typerelated genetic factors preferentially predisposing to either typical absence or myoclonic seizures, respectively.
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