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 …

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 brain neurons, and sodium
channel blockers are used in therapy of epilepsy. Mutations in sodium channels are …

Background Familial hemiplegic migraine is an autosomal dominant severe subtype of
migraine with aura characterised by some degree of hemiparesis during the attacks. So far …

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 …

Voltage-gated Na+ channels (VGSCs) in mammals contain a pore-forming α subunit and
one or more β subunits. There are five mammalian β subunits in total: β1, β1B, β2, β3, and …

Voltage-gated sodium channels (VGSCs) are responsible for the initiation and propagation
of action potentials in excitable cells. VGSCs in mammalian brain are heterotrimeric …

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 …

Epilepsy is a common and devastating neurological disorder. In many patients with epilepsy,
seizures are well-controlled with currently available anti-epileptic drugs (AEDs), but a …