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 …

The β-amyloid (Aβ) peptide is the major constituent of amyloid plaques in Alzheimer's
disease (AD) brain and is likely to play a central role in the pathogenesis of this devastating …

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 …

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 …

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 …

Brugada syndrome is a genetic disease associated with sudden cardiac death that is
characterized by ventricular fibrillation and right precordial ST segment elevation on ECG …

A variety of inherited human disorders affecting skeletal muscle contraction, heart rhythm,
and nervous system function have been traced to mutations in genes encoding voltage …

Objective: Following our original description of generalized epilepsy with febrile seizures
plus (GEFS+) in 1997, we analyze the phenotypic spectrum in 409 affected individuals in 60 …

Dravet syndrome (also called severe myoclonic epilepsy of infancy) is one of the most
severe forms of childhood epilepsy. Most patients have heterozygous mutations in SCN1A …