Targeted resequencing gene panels are used in the diagnostic setting to identify gene
defects in epilepsy. We performed targeted resequencing using a 30‐genes panel and a 95 …

Background The purposes of this study were three‐fold:(i) to determine the contribution of
known genes to the causation of a broad‐spectrum of pediatric drug‐resistant epilepsy …

Rationale The utility of genetic testing in pediatric drug-resistant epilepsy (PDRE), its yield in
“real life” clinical practice, and the practical implications of such testing are yet to be …

Pharmacoresistant epilepsy presenting during infancy poses both diagnostic and
therapeutic challenges. We aim to identify diagnostic yield and treatment implications of …

Introduction: Within the last decade, next-generation sequencing (NGS) has resulted in
remarkable advances in the field of epilepsy genetics. NGS has become a routine part of the …

Objective Epilepsy and intellectual/developmental disabilities (ID/DD) have a high rate of co-
occurrence. Here, we investigated gene mutations in Chinese children with unexplained …

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 …

The steps from patient evaluation to genetic diagnosis remain complicated. We discuss
some of the genetic testing methods available along with their general advantages and …

Pediatric refractory epilepsy is a broad phenotypic spectrum with great genetic
heterogeneity. Next-generation sequencing (NGS) combined with Sanger sequencing could …

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 …