Article (Scientific journals)
Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data
Allen, Andrew S.; Berkovic, Samuel F.; Bridgers, Joshua et al.
2017In European Journal of Human Genetics
Peer Reviewed verified by ORBi
 

Files


Full Text
ejhg201761a.pdf
Publisher postprint (182.02 kB)
Request a copy

All documents in ORBilu are protected by a user license.

Send to



Details



Keywords :
Epilepsy; Genetics; Rare variant
Abstract :
[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.
Research center :
- Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group)
Luxembourg Centre for Systems Biomedicine (LCSB): Experimental Neurobiology (Balling Group)
Disciplines :
Genetics & genetic processes
Author, co-author :
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 ;  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  ;  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  ;  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.
More authors (104 more) Less
External co-authors :
yes
Language :
English
Title :
Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data
Publication date :
17 May 2017
Journal title :
European Journal of Human Genetics
ISSN :
1476-5438
Publisher :
Nature Publishing Group, London, United Kingdom
Peer reviewed :
Peer Reviewed verified by ORBi
Focus Area :
Systems Biomedicine
Available on ORBilu :
since 19 May 2017

Statistics


Number of views
133 (10 by Unilu)
Number of downloads
1 (1 by Unilu)

Scopus citations®
 
7
Scopus citations®
without self-citations
6
OpenCitations
 
6
WoS citations
 
5

Bibliography


Similar publications



Contact ORBilu