Pediatric Epilepsy Genetic Testing Results and Long-term Seizure Freedom.

ABSTRACT: Objective: To determine whether there is a correlation of genetic diagnosis/result with long-term seizure freedom in pediatric epilepsy patients. Methods: This was a prospective and retrospective cohort study of children with epilepsy referred for genetic testing at a single center. The primary outcomes were presence and type of genetic diagnosis (pathogenic, benign, or variant of uncertain significance) and patient epilepsy status (seizure free, treatment failure, uncertain). Epilepsy gene panels were the primary method of genetic testing. Results: The prospective cohort had 22 patients followed for >11 years and for whom genetic testing was then performed; the retrospective cohort had 78 patients with previous genetic testing followed for >8 years. In the prospective

SUBMITTER: Sandoval Karamian AG 

PROVIDER: S-EPMC11466685 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature