We evaluated a new epilepsy genetic diagnostic and counseling service covering a UK
population of 3.5 million. We calculated diagnostic yield, estimated clinical impact, and …

Abstract Background The advent of Next Generation Sequencing (NGS) has led to a
redefining of the genetic landscape of the epilepsies. Hundreds of single gene epilepsies …

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 …

Epilepsy is one of the most common neurological disorders with diverse phenotypic
characteristics and high genetic heterogeneity. Epilepsy often occurs in childhood, so timely …

Background Genetic testing is an emerging diagnostic approach in early‐onset epilepsy.
Identification of the heterogeneous genetic causes of epilepsy may mitigate unnecessary …

Purpose: We aimed to evaluate the diagnostic yield of epilepsy gene panel testing in
epilepsy patients whose seizures began within the first year after birth. We included 112 …

Importance Although genetic testing is important for bringing precision medicine to children
with epilepsy, it is unclear what genetic testing strategy is best in maximizing diagnostic …

Pediatric epilepsies are a group of disorders with a broad phenotypic spectrum that are
associated with great genetic heterogeneity, thus making sequential single-gene testing an …

Objective Identify the predictive variables of genetic pathogenic results and the impact of test
results on epilepsy diagnosis and management. Methods Analytical observational design …

Background Evidence of the impact of genetic diagnosis on medical management in
individuals with previously unexplained epilepsy is lacking in the literature. Our goal was to …