Neurodevelopmental disorders (NDDs) are a class of disorders affecting brain development
and function and are characterized by wide genetic and clinical variability. In this review, we …

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 …

Evidence from human genetic pain disorders shows that voltage-gated sodium channel α-
subtypes Nav1. 7, Nav1. 8 and Nav1. 9 are important in the peripheral signalling of pain …

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

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

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

Objective Genetic testing has become a routine part of the diagnostic workup in children with
early onset epilepsies. In the present study, we sought to investigate a cohort of adult …

Objective Voltage‐gated sodium channels (SCNs) share similar amino acid sequence,
structure, and function. Genetic variants in the four human brain‐expressed SCN genes …

Abstract NBI-921352 (formerly XEN901) is a novel sodium channel inhibitor designed to
specifically target Na V 1.6 channels. Such a molecule provides a precision-medicine …

Background and Objectives Pathogenic variants at the voltage-gated sodium channel gene,
SCN8A, are associated with a wide spectrum of clinical disease outcomes. A critical …