Epilepsy is a common and serious neurologic disease with a strong genetic component.
Genetic studies have identified an increasing collection of disease-causing genes. The …

Epilepsy is a disease characterized by abnormal brain activity and a predisposition to
generate epileptic seizures, leading to neurobiological, cognitive, psychological, social, and …

Mutations in SCN2A, a gene encoding the voltage-gated sodium channel Nav1. 2, have
been associated with a spectrum of epilepsies and neurodevelopmental disorders. Here, we …

Developmental and epileptic encephalopathies are devastating disorders characterized by
epilepsy, intellectual disability, and other neuropsychiatric symptoms, for which available …

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 …

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 …

Recently, de novo mutations in the gene KCNA2, causing either a dominant-negative loss-of-
function or a gain-of-function of the voltage-gated K+ channel Kv1. 2, were described to …

Pathogenic variants in the SCN 2A gene are associated with a variety of
neurodevelopmental phenotypes, defined in recent years through multicenter collaboration …

Rapid advances in sequencing technology have led to an explosive increase in the number
of genetic variants identified in patients with neurological disease and have also enabled …

Highlights•NMDAR rare variants are associated with various neuropsychiatric
disorders.•Functional consequences of variants differ among domains.•Evaluation of …