Epilepsy encompasses a group of heterogeneous brain diseases that affect more than 50
million people worldwide. Epilepsy may have discernible structural, infectious, metabolic …

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 …

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 …

Sequencing-based studies have identified novel risk genes associated with severe
epilepsies and revealed an excess of rare deleterious variation in less-severe forms of …

Purpose With growing evidence that rare single gene disorders present in the neonatal
period, there is a need for rapid, systematic, and comprehensive genomic diagnoses in ICUs …

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

Epilepsy, defined by the occurrence of two or more unprovoked seizures or one unprovoked
seizure with a propensity for others, affects 0.64% of the population and can lead to …

Importance Genomic advances inform our understanding of epilepsy and can be translated
to patients as precision diagnoses that influence clinical treatment, prognosis, and …

Purpose This study aimed to estimate the cost-effectiveness of exome sequencing (ES) and
genome sequencing (GS) for children. Methods We modeled costs, diagnoses, and quality …

Objective Epilepsy of infancy with migrating focal seizures (EIMFS) is one of the most severe
developmental and epileptic encephalopathies. We delineate the genetic causes and …