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Genetic testing is currently advised for all people with epilepsy of unknown etiology, including adults. But limited information is available on diagnostic yield beyond the pediatric setting.
To help address this gap, researchers retrospectively reviewed records from 508 adults with epilepsy who underwent genetic testing at a single tertiary care center between 2018 and 2024. Median age was 24 years; more than 80% had seizure onset before age 18, and half had drug-resistant epilepsy.
Pathogenic variants were identified in one third of the cohort, with low-frequency pathogenic variants accounting for more than half of the positive findings. Variants of uncertain significance were found in half the cohort.
Whole-exome sequencin…