Epilepsia

Early View (Online Version of Record published before inclusion in an issue)

Obtaining genetic testing in pediatric epilepsy

Margie A. Ream^1,2 and
Anup D. Patel^1,2,*

Article first published online: 8 SEP 2015

DOI: 10.1111/epi.13122

Keywords:

Exome sequencing;
Next generation sequencing;
Diagnosis

Summary

The steps from patient evaluation to genetic diagnosis remain complicated. We discuss some of the genetic testing methods available along with their general advantages and disadvantages. We briefly review common pediatric epilepsy syndromes with strong genetic association and provide a potentially useful algorithm for genetic testing in drug-resistant epilepsy. We performed an extensive literature review of available information as it pertains to genetic testing and genetics in pediatric epilepsy. If a genetic disorder is suspected as the cause of epilepsy, based on drug resistance, family history, or clinical phenotype, timely diagnosis may reduce overall cost, limit the diagnostic odyssey that can bring much anxiety to families, improve prognostic accuracy, and lead to targeted therapy. Interpretation of complicated results should be performed only in collaboration with geneticists and genetic counselors, unless the ordering neurologist has a strong background in and understanding of genetics. Genetic testing can play an important role in the care provided to patients with epilepsy.