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 …

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 …

Voltage-gated sodium channel Na v 1.5 generates cardiac action potentials and initiates the
heartbeat. Here, we report structures of Na V 1.5 at 3.2–3.5 Å resolution. Na V 1.5 is …

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

We identify a human mutation (E1053K) in the ankyrin-binding motif of Nav1. 5 that is
associated with Brugada syndrome, a fatal cardiac arrhythmia caused by altered function of …

Misfolded proteins compromise cellular homeostasis. This is especially problematic in the
endoplasmic reticulum (ER), which is a high-capacity protein-folding compartment and …

▪ Abstract Mutations in over 70 genes now define biological pathways leading to epilepsy,
an episodic dysrhythmia of the cerebral cortex marked by abnormal network …

BACKGROUND: Patients carrying loss-of-function SCN5A mutations linked to Brugada
syndrome (BrS) or progressive cardiac conduction disease (PCCD) are at risk of sudden …

The mechanisms underlying normal and abnormal cardiac rhythms are complex and
incompletely understood. Through the study of uncommon inheritable arrhythmia …

The Brugada syndrome (BS) is a distinct form of idiopathic ventricular fibrillation and may
cause sudden cardiac death in healthy young individuals. In the surface ECG, BS can be …