Genetic Diagnosis Impacts Medical Management for Pediatric Epilepsies.

ABSTRACT:

Background

Evidence of the impact of genetic diagnosis on medical management in individuals with previously unexplained epilepsy is lacking in the literature. Our goal was to determine the impact of genetic diagnosis on medical management in a cohort of individuals with early-onset epilepsy.

Methods

We performed detailed phenotyping of individuals with epilepsy who underwent clinical genetic testing with an epilepsy panel and/or exome sequencing at Boston Children's Hospital between 2012 and 2019. We assessed the impact of genetic diagnosis on medical management.

Results

We identified a genetic etiology in 152 of 602 (25%) individuals with infantile- or childhood-onset epilepsy who underwent next-generation sequencing. Diagnosis impacted medical management in at least

SUBMITTER: Haviland I 

PROVIDER: S-EPMC10099530 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature