Burden Analysis of Rare Microdeletions Suggests a Strong Impact of Neurodevelopmental Genes in Genet...
Burden Analysis of Rare Microdeletions Suggests a Strong Impact of Neurodevelopmental Genes in Genetic Generalised Epilepsies
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Author / Creator
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 and EPICURE Consortium
Publisher
United States: Public Library of Science
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English
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Publisher
United States: Public Library of Science
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Contents
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 confide...
Alternative Titles
Full title
Burden Analysis of Rare Microdeletions Suggests a Strong Impact of Neurodevelopmental Genes in Genetic Generalised Epilepsies
Authors, Artists and Contributors
Author / Creator
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
EPICURE Consortium
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Record Identifier
TN_cdi_plos_journals_1685147564
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1685147564
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ISSN
1553-7404,1553-7390
E-ISSN
1553-7404
DOI
10.1371/journal.pgen.1005226
