Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.

ABSTRACT:

Importance

It is currently unknown how often and in which ways a genetic diagnosis given to a patient with epilepsy is associated with clinical management and outcomes.

Objective

To evaluate how genetic diagnoses in patients with epilepsy are associated with clinical management and outcomes.

Design, setting, and participants

This was a retrospective cross-sectional study of patients referred for multigene panel testing between March 18, 2016, and August 3, 2020, with outcomes reported between May and November 2020. The study setting included a commercial genetic testing laboratory and multicenter clinical practices. Patients with epilepsy, regardless of sociodemographic features, who received a pathogenic/likely pathogenic (P/LP) variant were included in the study. Ca

SUBMITTER: McKnight D 

PROVIDER: S-EPMC9623482 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature