Obtaining genetic testing in pediatric epilepsy

Epilepsia
Margie A Ream, Anup D Patel

Abstract

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.

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Citations

Aug 16, 2016·Epilepsia·David T Miller
Nov 14, 2018·The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques·Puneet JainO Carter Snead
Sep 19, 2019·Acta Neurologica Scandinavica·Antonio Gil-NagelCristina Tato
Jan 6, 2019·Neurology·Iván Sánchez FernándezAnnapurna Poduri
May 20, 2020·Pflügers Archiv : European journal of physiology·Ilaria RivoltaJacopo C DiFrancesco
Nov 12, 2020·Seminars in Neurology·David M Ritter, Katherine Holland
Nov 12, 2020·Seminars in Neurology·Jeffrey R Tenney
Mar 9, 2021·Frontiers in Pediatrics·Juliann M Savatt, Scott M Myers
Mar 18, 2021·Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova·O A RakhmaninaI A Lebedev

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