The activity of voltage-gated sodium channels has long been linked to disorders of neuronal
excitability such as epilepsy and chronic pain. Recent genetic studies have now expanded …

Mutations in a number of genes encoding voltage‐gated sodium channels cause a variety of
epilepsy syndromes in humans, including genetic (generalized) epilepsy with febrile …

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 …

The voltage-gated sodium channel Nav1. 2 is responsible for the initiation and propagation
of action potentials in the central nervous system. We report the cryo–electron microscopy …

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 …

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

Background We sought to investigate the diagnostic yield and mutation spectrum in
previously reported genes for early-onset epilepsy and disorders of severe developmental …

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 …

Since the first mutations of the neuronal sodium channel SCN1A were identified 5 years
ago, more than 150 mutations have been described in patients with epilepsy. Many are …

Ion channels serve many functions apart from electrical signal transduction: chemical
signalling (Ca2+ as a second messenger), transepithelial transport, regulation of …