Reference : Application of rare variant transmission disequilibrium tests to epileptic encephalop...
Scientific journals : Article
Life sciences : Genetics & genetic processes
Systems Biomedicine
http://hdl.handle.net/10993/31232
Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data
English
Allen, Andrew S. [> >]
Berkovic, Samuel F. [> >]
Bridgers, Joshua [> >]
Cossette, Patrick [> >]
Dlugos, Dennis [> >]
Epstein, Michael P. [> >]
Glauser, Tracy [> >]
Goldstein, David B. [> >]
Heinzen, Erin L. [> >]
Jiang, Yu [> >]
Johnson, Michael R. [> >]
Kuzniecky, Ruben [> >]
Lowenstein, Daniel H. [> >]
Marson, Anthony G. [> >]
Mefford, Heather C. [> >]
O'Brien, Terence J. [> >]
Ottman, Ruth [> >]
Petrou, Steven [> >]
Petrovski, Slavé [> >]
Poduri, Annapurna [> >]
Ren, Zhong [> >]
Scheffer, Ingrid E. [> >]
Sherr, Elliott [> >]
Wang, Quanli [> >]
Balling, Rudi mailto [University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) >]
Barisic, Nina [> >]
Baulac, Stéphanie [> >]
Caglayan, Hande [> >]
Craiu, Dana [> >]
De Jonghe, Peter [> >]
Depienne, Christel [> >]
Guerrini, Renzo [> >]
Helbig, Ingo [> >]
Hjalgrim, Helle [> >]
Hoffman-Zacharska, Dorota [> >]
Jähn, Johanna [> >]
Klein, Karl Martin [> >]
Koeleman, Bobby [> >]
Komarek, Vladimir [> >]
Krause, Roland mailto [University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) >]
Leguern, Eric [> >]
Lehesjoki, Anna-Elina [> >]
Lemke, Johannes R. [> >]
Lerche, Holger [> >]
Linnankivi, Tarja [> >]
Marini, Carla [> >]
May, Patrick mailto [University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) >]
Møller, Rikke S. [> >]
Muhle, Hiltrud [> >]
Pal, Deb [> >]
Palotie, Aarno [> >]
Rosenow, Felix [> >]
Selmer, Kaja [> >]
Serratosa, Jose M. [> >]
Sisodiya, Sanjay [> >]
Stephani, Ulrich [> >]
Sterbova, Katalin [> >]
Striano, Pasquale [> >]
Suls, Arvid [> >]
Talvik, Tiina [> >]
von Spiczak, Sarah [> >]
Weber, Yvonne [> >]
Weckhuysen, Sarah [> >]
Zara, Federico [> >]
Abou-Khalil, Bassel [> >]
Alldredge, Brian K. [> >]
Amrom, Dina [> >]
Andermann, Eva [> >]
Andermann, Frederick [> >]
Bautista, Jocelyn F. [> >]
Berkovic, Samuel F. [> >]
Bluvstein, Judith [> >]
Cascino, Gregory D. [> >]
Consalvo, Damian [> >]
Crumrine, Patricia [> >]
Devinsky, Orrin [> >]
Dlugos, Dennis [> >]
Epstein, Michael P. [> >]
Fiol, Miguel E. [> >]
Fountain, Nathan B. [> >]
French, Jacqueline [> >]
Friedman, Daniel [> >]
Glauser, Tracy [> >]
Haas, Kevin [> >]
Haut, Sheryl R. [> >]
Hayward, Jean [> >]
Joshi, Sucheta [> >]
Kanner, Andres [> >]
Kirsch, Heidi E. [> >]
Kossoff, Eric H. [> >]
Kuperman, Rachel [> >]
Kuzniecky, Ruben [> >]
Lowenstein, Daniel H. [> >]
McGuire, Shannon M. [> >]
Motika, Paul V. [> >]
Novotny, Edward J. [> >]
Ottman, Ruth [> >]
Paolicchi, Juliann M. [> >]
Parent, Jack [> >]
Park, Kristen [> >]
Poduri, Annapurna [> >]
Scheffer, Ingrid E. [> >]
Shellhaas, Renée A. [> >]
Sherr, Elliott [> >]
Sirven, Joseph [> >]
Smith, Michael C. [> >]
Sullivan, Joseph [> >]
Thio, Liu Lin [> >]
Venkat, Anu [> >]
Vining, Eileen P. G. [> >]
Von Allmen, Gretchen K. [> >]
Weisenberg, Judith L. [> >]
Widdess-Walsh, Peter [> >]
Winawer, Melodie R. [> >]
17-May-2017
European Journal of Human Genetics
Nature Publishing Group
Yes (verified by ORBilu)
International
1018-4813
1476-5438
London
United Kingdom
[en] Epilepsy ; Genetics ; Rare variant
[en] The classic epileptic encephalopathies, including infantile spasms (IS) and Lennox–Gastaut syndrome (LGS), are severe seizure disorders that usually arise sporadically. De novo variants in genes mainly encoding ion channel and synaptic proteins have been found to account for over 15% of patients with IS or LGS. The contribution of autosomal recessive genetic variation, however, is less well understood. We implemented a rare variant transmission disequilibrium test (TDT) to search for autosomal recessive epileptic encephalopathy genes in a cohort of 320 outbred patient–parent trios that were generally prescreened for rare metabolic disorders. In the current sample, our rare variant transmission disequilibrium test did not identify individual genes with significantly distorted transmission over expectation after correcting for the multiple tests. While the rare variant transmission disequilibrium test did not find evidence of a role for individual autosomal recessive genes, our current sample is insufficiently powered to assess the overall role of autosomal recessive genotypes in an outbred epileptic encephalopathy population.
Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) ; Luxembourg Centre for Systems Biomedicine (LCSB): Experimental Neurobiology (Balling Group)
http://hdl.handle.net/10993/31232
10.1038/ejhg.2017.61
http://www.nature.com/doifinder/10.1038/ejhg.2017.61

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