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 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 …

Objective We evaluated> 8500 consecutive, unselected patients with epilepsy and
neurodevelopmental disorders who underwent multigene panel testing to determine the …

Purpose: To assess the yield of diagnostic exome sequencing (DES) and to characterize the
molecular findings in characterized and novel disease genes in patients with epilepsy …

Objective: To give a comprehensive overview of the phenotypic and genetic spectrum of
STXBP1 encephalopathy (STXBP1-E) by systematically reviewing newly diagnosed and …

Background: SCN1A is one of the most common epilepsy genes. About 80% of SCN1A
gene mutations cause Dravet syndrome (DS), which is a severe and catastrophic epileptic …

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 …

Early onset epileptic encephalopathies (EOEE s) represent a significant diagnostic
challenge. Newer genomic approaches have begun to elucidate an increasing number of …

Epilepsy is a neurological disorder characterized by an increased predisposition for
seizures. Although this definition suggests that it is a single disorder, epilepsy encompasses …