The voltage-gated sodium channel α-subunit genes comprise a highly conserved gene
family. Mutations of three of these genes, SCN1A, SCN2A and SCN8A, are responsible for a …

The epilepsies are a heterogeneous group of disorders characterized by the propensity to
experience spontaneous recurrent seizures. Epilepsies can be genetic or acquired, and the …

Importance Fenfluramine treatment may reduce monthly convulsive seizure frequency in
patients with Dravet syndrome who have poor seizure control with their current stiripentol …

Importance Clinical evidence supports effectiveness of cannabidiol for treatment-resistant
seizures in Dravet syndrome, but this trial is the first to evaluate the 10-mg/kg/d dose …

Objective Add‐on cannabidiol (CBD) significantly reduced seizures associated with Dravet
syndrome (DS) in a randomized, double‐blind, placebo‐controlled trial: GWPCARE1 Part B …

While most monogenic diseases are caused by loss or reduction of protein function, the
need for technologies that can selectively increase levels of protein in native tissues …

Epilepsy is a frequent feature of neurodevelopmental disorders (NDDs), but little is known
about genetic differences between NDDs with and without epilepsy. We analyzed de novo …

Background Variants in the SCN2A gene that disrupt the encoded neuronal sodium channel
Na V 1.2 are important risk factors for autism spectrum disorder (ASD), developmental delay …

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

Individuals with severe, sporadic disorders of infantile onset represent an important class of
disease for which discovery of the underlying genetic architecture is not amenable to …