@article{bc4c2578704741f0afe0e210fbe2799b,
title = "Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data",
abstract = "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.",
author = "{Epi4K Consortium} and {Epilepsy Phenome Genome Project} and {EuroEPINOMICS-RES Consortium} and Allen, {Andrew S.} and Berkovic, {Samuel F.} and Joshua Bridgers and Patrick Cossette and Dennis Dlugos and Epstein, {Michael P.} and Tracy Glauser and Goldstein, {David B.} and Heinzen, {Erin L.} and Yu Jiang and Johnson, {Michael R.} and Ruben Kuzniecky and Lowenstein, {Daniel H.} and Marson, {Anthony G.} and Mefford, {Heather C.} and O'Brien, {Terence J.} and Ruth Ottman and Steven Petrou and Slav{\'e} Petrovski and Annapurna Poduri and Zhong Ren and Scheffer, {Ingrid E.} and Elliott Sherr and Quanli Wang and Rudi Balling and Nina Barisic and St{\'e}phanie Baulac and Hande Caglayan and Dana Craiu and {De Jonghe}, Peter and Christel Depienne and Renzo Guerrini and Ingo Helbig and Helle Hjalgrim and Dorota Hoffman-Zacharska and Johanna J{\"a}hn and Klein, {Karl Martin} and Bobby Koeleman and Vladimir Komarek and Roland Krause and Eric Leguern and Lehesjoki, {Anna Elina} and Lemke, {Johannes R.} and Holger Lerche and Tarja Linnankivi and Carla Marini and Patrick May and M{\o}ller, {Rikke S.} and Hiltrud Muhle and Haut, {Sheryl R.}",
note = "Publisher Copyright: {\textcopyright} 2017 Macmillan Publishers Limited, part of Springer Nature. All rights reserved.",
year = "2017",
month = jun,
day = "1",
doi = "10.1038/ejhg.2017.61",
language = "English (US)",
volume = "25",
pages = "894--899",
journal = "European Journal of Human Genetics",
issn = "1018-4813",
publisher = "Nature Publishing Group",
number = "7",
}