Diagnostic Yield From 339 Epilepsy Patients Screened on a Clinical Gene Panel.

ABSTRACT:

Background

The contribution of genetic factors to epilepsy has long been recognized and has been estimated to play a role in 70% to 80% of cases. Identification of a pathogenic variant can help families to better cope with the disorder, allows for genetic counseling to determine recurrence risk, and in some cases, can directly influence treatment options. In this study, we determined the diagnostic yield of a clinical gene panel applied to an unselected cohort of epilepsy patients.

Methods

Variant reports from 339 clinically referred epilepsy patients screened using a 110-gene panel were retrospectively reviewed. Variants were classified using the American College of Medical Genetics and Genomics guidelines.

Results

Pathogenic or likely pathogenic variants were identi

SUBMITTER: Butler KM 

PROVIDER: S-EPMC6885003 | biostudies-literature | 2017 Dec

REPOSITORIES: biostudies-literature