Epilepsy is one of the most common and disabling neurologic conditions, yet we have an
incomplete understanding of the detailed pathophysiology and, thus, treatment rationale for …

Epilepsy is a group of disorders characterized by recurrent seizures, and is one of the most
common neurological conditions. The genetic basis of epilepsy is clear from epidemiological …

Copy number variants (CNV) are established risk factors for neurodevelopmental disorders
with seizures or epilepsy. With the hypothesis that seizure disorders share genetic risk …

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

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

Objective Epilepsy is a common neurologic disorder of childhood. To determine the genetic
diagnostic yield in epileptic encephalopathy, we performed a retrospective cohort study in a …

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 …

Chromosome 16p11. 2 deletions and duplications are among the most frequent genetic
etiologies of autism spectrum disorder (ASD) and other neurodevelopmental disorders, but …

Technological advances have paved the way for accelerated genomic discovery and are
bringing precision medicine clearly into view. Epilepsy research in particular is well suited to …

Objective To compare the cost-effectiveness of genetic testing strategies in patients with
epilepsy of unknown etiology. Methods This meta-analysis and cost-effectiveness study …