Burden Analysis of Rare Microdeletions Suggests a Strong Impact of Neurodevelopmental Genes in Genetic Generalised Epilepsies

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...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4423931/
https://www.ncbi.nlm.nih.gov/pubmed/25950944
http://dx.doi.org/10.1371/journal.pgen.1005226

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4423931/
https://www.ncbi.nlm.nih.gov/pubmed/25950944
http://dx.doi.org/10.1371/journal.pgen.1005226

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