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Detection of Causative Variants Using Multigene Panels in a Pediatric Population with Epilepsy

Campbell, Caitlin
http://rave.ohiolink.edu/etdc/view?acc_num=ucin1427812624

Abstract Details

2015, MS, University of Cincinnati, Medicine: Genetic Counseling.
Objective: Guidelines for ordering genetic testing for epilepsy have not been developed and there is little information available on the various genetic testing options for epilepsy. Specifically, few studies address the yield of epilepsy multigene panels. The purpose of this study was to determine the yield of epilepsy panels among a pediatric population, as well as to identify clinical predictors of obtaining a genetic diagnosis using epilepsy panels. Methods: This retrospective medical record review examined data of 117 pediatric epilepsy patients at a large tertiary referral center who had at least one epilepsy panel of any type ordered between January 1st, 2009 and December 31st, 2013. The association of clinical predictors with epilepsy panel results was analyzed using the chi-square test, Fisher’s exact test, and Wilcoxon rank-sum test. Results: Of 124 epilepsy panels ordered, 17 (13.7%) received a causative result. Tonic or atonic seizures detected on EEG (p=0.04) were significantly associated with causative results. A higher proportion of children with myoclonic seizures on EEG had a causative panel result, which trended toward significance (p=0.06). Microcephaly, age of onset of epilepsy, developmental delay, drug resistant epilepsy, congenital malformations, and abnormal brain MRI results were not found to be useful predictors. The number of genes on the multigene panel did not correlate with diagnostic yield. Of the 17 participants with causative results, eight had mutations in sodium or potassium channel genes. Significance: This study had a comparable yield to other epilepsy panel studies and is currently the largest study examining clinical characteristics of patients with epilepsy panel testing. This study identified that certain seizure types (tonic or atonic seizures on EEG) are clinical predictors of panel results, however further studies are needed to confirm these clinical predictors and clarify the utility of various ordering practices for genetic testing in epilepsy.
Hansel Matthias Greiner, M.D. (Committee Chair)
Emily (King) Partack, MS (Committee Member)
Valentina Pilipenko, Ph.D. (Committee Member)
Thomas Burrow, M.D. (Committee Member)
41 p.
Genetics
Molecular diagnostic yield; Clinical predictors; Genetic testing; Channelopathy

Recommended Citations

Citations

  • Campbell, C. (2015). Detection of Causative Variants Using Multigene Panels in a Pediatric Population with Epilepsy [Master's thesis, University of Cincinnati]. OhioLINK Electronic Theses and Dissertations Center. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1427812624

    APA Style (7th edition)

  • Campbell, Caitlin. Detection of Causative Variants Using Multigene Panels in a Pediatric Population with Epilepsy. 2015. University of Cincinnati, Master's thesis. OhioLINK Electronic Theses and Dissertations Center, http://rave.ohiolink.edu/etdc/view?acc_num=ucin1427812624.

    MLA Style (8th edition)

  • Campbell, Caitlin. "Detection of Causative Variants Using Multigene Panels in a Pediatric Population with Epilepsy." Master's thesis, University of Cincinnati, 2015. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1427812624

    Chicago Manual of Style (17th edition)

ucin1427812624
316
© 2015, some rights reserved.Creative Commons License Detection of Causative Variants Using Multigene Panels in a Pediatric Population with Epilepsy by Caitlin Campbell is licensed under a Creative Commons Attribution-NonCommercial-NoDerivs 3.0 Unported License. Based on a work at etd.ohiolink.edu.
This open access ETD is published by University of Cincinnati and OhioLINK.