Article
Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies.
PLoS genetics - 1 May 2015
Lal Dennis, Ruppert Ann-Kathrin, Trucks Holger, Schulz Herbert, de Kovel Carolien G, Kasteleijn-Nolst Trenité Dorothée, Sonsma Anja C M, Koeleman Bobby P, Lindhout Dick, Weber Yvonne G, Lerche Holger, Kapser Claudia, Schankin Christoph J, Kunz Wolfram S, Surges Rainer, Elger Christian E, Gaus Verena, Schmitz Bettina, Helbig Ingo, Muhle Hiltrud, Stephani Ulrich, Klein Karl M, Rosenow Felix, Neubauer Bernd A, Reinthaler Eva M, Zimprich Fritz, Feucht Martha, Møller Rikke S, Hjalgrim Helle, De Jonghe Peter, Suls Arvid, Lieb Wolfgang, Franke Andre, Strauch Konstantin, Gieger Christian, Schurmann Claudia, Schminke Ulf, Nürnberg Peter, Sander Thomas
Abstract excerpt
Genetic generalised epilepsy (GGE) is the most common form of genetic epilepsy, accounting for 20% of all epilepsies. Genomic copy number variations (CNVs) constitute important genetic risk factors of common GGE syndromes. In our present genome-wide burden analysis, large (≥ 400 kb) and rare (< 1%) autosomal microdeletions with high calling confidence (≥ 200 markers) were assessed by the Affymetrix SNP 6.0 array...
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