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 …

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 …

Epilepsy is common in early childhood. In this age group it is associated with high rates of
therapy-resistance, and with cognitive, motor, and behavioural comorbidity. A large number …

Epilepsy genetics is a rapidly developing field, in which novel disease‐associated genes,
novel mechanisms associated with epilepsy, and precision medicine approaches are …

Objective Molecular genetic etiologies in epilepsy have become better understood in recent
years, creating important opportunities for precision medicine. Building on these advances …

Recent advances in molecular genetics have translated into the increasing utilisation of
genetic testing in the routine clinical practice of neurologists. There has been a steady …

Introduction: Epileptic disorders are a heterogeneous group of medical conditions with
epilepsy as the common denominator. Genetic causes, electro-clinical features, and …

During the last decade, next generation sequencing technologies such as targeted gene
panels, whole exome sequencing and whole genome sequencing have led to an explosion …

Objective We evaluated> 8500 consecutive, unselected patients with epilepsy and
neurodevelopmental disorders who underwent multigene panel testing to determine the …

Purpose: Epilepsies have a highly heterogeneous background with a strong genetic
contribution. The variety of unspecific and overlapping syndromic and nonsyndromic …