Neurodevelopmental disorders are the most prevalent chronic medical conditions
encountered in pediatric primary care. In addition to identifying appropriate descriptive …

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 …

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

Objective To delineate the electroclinical features of SCN8A infantile developmental and
epileptic encephalopathy (EIEE13, OMIM# 614558). Methods Twenty-two patients, aged 19 …

The high pace of gene discovery has resulted in thrilling advances in the field of epilepsy
genetics. Clinical testing with comprehensive gene panels, exomes, or genomes are now …

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 …

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 …

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 …

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 …