Advantages of Exome Sequencing Over Panel Testing for Individuals With a Seizure Indication.

Exome sequencing identified diagnostic variants (pathogenic and/or likely pathogenic; L/PATH) in 778 seizure-related genes, resulting in diagnoses in 4035 individuals (24.6% of the cohort).

Of the 778 genes, 454 (58.4%) were not present on a comparison sample of six commercially available epilepsy panel tests.

Nineteen percent (753/4035) of the cohort had a previous epilepsy panel.

Exome sequencing added new diagnostic information in this panel-tested sub-cohort, including L/PATH variants not reported on the epilepsy panel (74.2% of patients) and L/PATH variants that were originally classified as variants of uncertain significance by the panel (11.2% of patients).