Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio seque...
Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data
About this item
Full title
Author / Creator
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, Slave , Poduri, Annapurna , Ren, Zhong , Scheffer, Ingrid E , Sherr, Elliott , Wang, Quanli , Balling, Rudi , Barisic, Nina , Baulac, Stephanie , Caglayan, Hande , Craiu, Dana , De Jonghe, Peter , Depienne, Christel , Guerrini, Renzo , Helbig, Ingo , Hjalgrim, Helle , Hoffman-Zacharska, Dorota , Jaehn, Johanna , Klein, Karl Martin , Koeleman, Bobby , Komarek, Vladimir , Krause, Roland , Leguern, Eric , Lehesjoki, Anna-Elina , Lemke, Johannes R , Lerche, Holger , Linnankivi, Tarja , Marini, Carla , May, Patrick , Moeller, Rikke S , Muhle, Hiltrud , Pal, Deb , et. al , Epi4K Consortium , EuroEPINOMICS-RES Consortium and Epilepsy Phenome Genome Project
Publisher
England: Nature Publishing Group
Journal title
Language
English
Formats
Publication information
Publisher
England: Nature Publishing Group
Subjects
More information
Scope and Contents
Contents
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 recessi...
Alternative Titles
Full title
Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data
Authors, Artists and Contributors
Author / Creator
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, Slave
Poduri, Annapurna
Ren, Zhong
Scheffer, Ingrid E
Sherr, Elliott
Wang, Quanli
Balling, Rudi
Barisic, Nina
Baulac, Stephanie
Caglayan, Hande
Craiu, Dana
De Jonghe, Peter
Depienne, Christel
Guerrini, Renzo
Helbig, Ingo
Hjalgrim, Helle
Hoffman-Zacharska, Dorota
Jaehn, Johanna
Klein, Karl Martin
Koeleman, Bobby
Komarek, Vladimir
Krause, Roland
Leguern, Eric
Lehesjoki, Anna-Elina
Lemke, Johannes R
Lerche, Holger
Linnankivi, Tarja
Marini, Carla
May, Patrick
Moeller, Rikke S
Muhle, Hiltrud
Pal, Deb
et. al
Epi4K Consortium
EuroEPINOMICS-RES Consortium
Epilepsy Phenome Genome Project
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5520073
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5520073
Other Identifiers
ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/ejhg.2017.61
