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Clinical utility of genetic testing in pediatric drug-resistant epilepsy: a pilot study.

Publication ,  Journal Article
Ream, MA; Mikati, MA
Published in: Epilepsy Behav
August 2014

RATIONALE: The utility of genetic testing in pediatric drug-resistant epilepsy (PDRE), its yield in "real life" clinical practice, and the practical implications of such testing are yet to be determined. GOAL: To start to address the above gaps in our knowledge as they apply to a patient population seen in a tertiary care center. METHODS: We retrospectively reviewed our experience with the use of clinically available genetic tests in the diagnosis and management of PDRE in one clinic over one year. Genetic testing included, depending on clinical judgment, one or more of the following: karyotype, chromosomal microarray, single gene sequencing, gene sequencing panels, and/or whole exome sequencing (WES). RESULTS: We were more likely to perform genetic testing in patients with developmental delay, epileptic encephalopathy, and generalized epilepsy. In our unique population, the yield of specific genetic diagnosis was relatively high: karyotype 14.3%, microarray 16.7%, targeted single gene sequencing 15.4%, gene panels 46.2%, and WES 16.7%. Overall yield of diagnosis from at least one of the above tests was 34.5%. Disease-causing mutations that were not clinically suspected based on the patients' phenotypes and representing novel phenotypes were found in 6.9% (2/29), with an additional 17.2% (5/29) demonstrating pharmacologic variants. Three patients were incidentally found to be carriers of recessive neurologic diseases (10.3%). Variants of unknown significance (VUSs) were identified in 34.5% (10/29). CONCLUSIONS: We conclude that genetic testing had at least some utility in our patient population of PDRE, that future similar larger studies in various populations are warranted, and that clinics offering such tests must be prepared to address the complicated questions raised by the results of such testing.

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Published In

Epilepsy Behav

DOI

EISSN

1525-5069

Publication Date

August 2014

Volume

37

Start / End Page

241 / 248

Location

United States

Related Subject Headings

  • Retrospective Studies
  • Pilot Projects
  • Phenotype
  • Pediatrics
  • Neurology & Neurosurgery
  • Humans
  • Genetic Testing
  • Female
  • Epilepsy, Generalized
  • Epilepsy
 

Citation

APA
Chicago
ICMJE
MLA
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Ream, M. A., & Mikati, M. A. (2014). Clinical utility of genetic testing in pediatric drug-resistant epilepsy: a pilot study. Epilepsy Behav, 37, 241–248. https://doi.org/10.1016/j.yebeh.2014.06.018
Ream, Margie A., and Mohamad A. Mikati. “Clinical utility of genetic testing in pediatric drug-resistant epilepsy: a pilot study.Epilepsy Behav 37 (August 2014): 241–48. https://doi.org/10.1016/j.yebeh.2014.06.018.
Ream, Margie A., and Mohamad A. Mikati. “Clinical utility of genetic testing in pediatric drug-resistant epilepsy: a pilot study.Epilepsy Behav, vol. 37, Aug. 2014, pp. 241–48. Pubmed, doi:10.1016/j.yebeh.2014.06.018.
Ream MA, Mikati MA. Clinical utility of genetic testing in pediatric drug-resistant epilepsy: a pilot study. Epilepsy Behav. 2014 Aug;37:241–248.
Journal cover image

Published In

Epilepsy Behav

DOI

EISSN

1525-5069

Publication Date

August 2014

Volume

37

Start / End Page

241 / 248

Location

United States

Related Subject Headings

  • Retrospective Studies
  • Pilot Projects
  • Phenotype
  • Pediatrics
  • Neurology & Neurosurgery
  • Humans
  • Genetic Testing
  • Female
  • Epilepsy, Generalized
  • Epilepsy