Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy.

ABSTRACT:

Importance

Although genetic testing is important for bringing precision medicine to children with epilepsy, it is unclear what genetic testing strategy is best in maximizing diagnostic yield.

Objectives

To evaluate the diagnostic yield of an exome-based gene panel for childhood epilepsy and discuss the value of follow-up testing.

Design, setting, and participants

A case series study was conducted on data from clinical genetic testing at Children's Hospital of Philadelphia was conducted from September 26, 2016, to January 8, 2018. Initial testing targeted 100 curated epilepsy genes for sequence and copy number analysis in 151 children with idiopathic epilepsy referred consecutively by neurologists. Additional genetic testing options were offered afterward.

Exposures

SUBMITTER: Balciuniene J 

PROVIDER: S-EPMC6481455 | biostudies-literature | 2019 Apr

REPOSITORIES: biostudies-literature