Genes with therapeutic associations responsible for majority of epilepsy mutations and minority of epilepsy VUS
Testing individuals with epilepsy via a targeted panel of genes with therapeutic associations may expedite diagnosis and tailor management
Over 70% of epilepsy mutations in our cohort were found in genes with therapeutic associations
Starting with a targeted panel of management-associated genes may maximize diagnostic yield and minimize potential for results of uncertain significance
Authors: Elaine C. Weltmer; Amal Yussuf; Heather Newman; Jing Wang