The genetic basis of many epilepsies is increasingly understood, giving rise to the possibility
of precision treatments tailored to specific genetic etiologies. Despite this, current medical …

Objective Numerous genetic testing options for individuals with epilepsy have emerged over
the past decade without clear guidelines regarding optimal testing strategies. We performed …

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

Objective Clinical genetic sequencing is frequently utilized to diagnose individuals with
neurodevelopmental disorders (NDDs). Here we perform a meta‐analysis and systematic …

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 …

Importance It is currently unknown how often and in which ways a genetic diagnosis given to
a patient with epilepsy is associated with clinical management and outcomes. Objective To …

A large fraction of rare and severe neurodevelopmental disorders are caused by sporadic
de novo variants. Epidemiological disease estimates are not available for the vast majority of …

Considerable genetic variation of N-methyl-d-aspartate receptors (NMDARs) has recently
become apparent, with many hundreds of de novo variants identified through widely …

Background and Objectives Although genetic testing among children with epilepsy has
demonstrated clinical utility and become a part of routine testing, studies in adults are …

Purpose Pathogenic variants in SCN2A cause a wide range of neurodevelopmental
phenotypes. Reports of genotype–phenotype correlations are often anecdotal, and the …