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

Publication ,  Journal Article
Epi4K Consortium, ; EuroEPINOMICS-RES Consortium, ; Epilepsy Phenome Genome Project,
Published in: Eur J Hum Genet
June 2017

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.

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Published In

Eur J Hum Genet

DOI

EISSN

1476-5438

Publication Date

June 2017

Volume

25

Issue

7

Start / End Page

894 / 899

Location

England

Related Subject Headings

  • Spasms, Infantile
  • Polymorphism, Genetic
  • Linkage Disequilibrium
  • Lennox Gastaut Syndrome
  • Infant
  • Humans
  • Genome-Wide Association Study
  • Genetics & Heredity
  • Genetic Predisposition to Disease
  • Gene Frequency
 

Citation

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ICMJE
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Epi4K Consortium, ., EuroEPINOMICS-RES Consortium, ., & Epilepsy Phenome Genome Project, . (2017). Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data. Eur J Hum Genet, 25(7), 894–899. https://doi.org/10.1038/ejhg.2017.61
Epi4K Consortium, Ashwin, Ashwin EuroEPINOMICS-RES Consortium, and Ashwin Epilepsy Phenome Genome Project. “Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data.Eur J Hum Genet 25, no. 7 (June 2017): 894–99. https://doi.org/10.1038/ejhg.2017.61.
Epi4K Consortium, EuroEPINOMICS-RES Consortium, Epilepsy Phenome Genome Project. Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data. Eur J Hum Genet. 2017 Jun;25(7):894–9.
Epi4K Consortium, Ashwin, et al. “Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data.Eur J Hum Genet, vol. 25, no. 7, June 2017, pp. 894–99. Pubmed, doi:10.1038/ejhg.2017.61.
Epi4K Consortium, EuroEPINOMICS-RES Consortium, Epilepsy Phenome Genome Project. Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data. Eur J Hum Genet. 2017 Jun;25(7):894–899.

Published In

Eur J Hum Genet

DOI

EISSN

1476-5438

Publication Date

June 2017

Volume

25

Issue

7

Start / End Page

894 / 899

Location

England

Related Subject Headings

  • Spasms, Infantile
  • Polymorphism, Genetic
  • Linkage Disequilibrium
  • Lennox Gastaut Syndrome
  • Infant
  • Humans
  • Genome-Wide Association Study
  • Genetics & Heredity
  • Genetic Predisposition to Disease
  • Gene Frequency