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Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data

Allen, AS; Berkovic, SF; Bridgers, J; Cossette, P; Dlugos, D; Epstein, MP; Glauser, T; ... Winawer, MR; + view all (2017) Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data. European Journal of Human Genetics , 25 (7) pp. 894-899. 10.1038/ejhg.2017.61. Green open access

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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.

Type: Article
Title: Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data
Open access status: An open access version is available from UCL Discovery
DOI: 10.1038/ejhg.2017.61
Publisher version: https://doi.org/10.1038/ejhg.2017.61
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: Epilepsy, Risk factors
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Experimental Epilepsy
URI: https://discovery.ucl.ac.uk/id/eprint/10082842
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