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 …

Abstract The International League Against Epilepsy (ILAE) Task Force on Nosology and
Definitions proposes a classification and definition of epilepsy syndromes in the neonate …

We report detailed functional analyses and genotype-phenotype correlations in 392
individuals carrying disease-causing variants in SCN8A, encoding the voltage-gated Na+ …

Pathogenic variants in the voltage-gated sodium channel gene family lead to early onset
epilepsies, neurodevelopmental disorders, skeletal muscle channelopathies, peripheral …

Voltage-gated sodium channels initiate action potentials in nerve, skeletal muscle, and other
electrically excitable cells. Mutations in them cause a wide range of diseases. These …

Objective Dravet syndrome (DS) is a severe developmental and epileptic encephalopathy
characterized by the onset of prolonged febrile and afebrile seizures in infancy, and evolving …

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

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 …

Neonatal seizures occur in their majority in close temporal relation to an acute brain injury or
systemic insult, and are accordingly defined as acute symptomatic or provoked seizures …