Ion channels play a central role in the regulation of nearly every cellular process. Dating
back to the classic 1952 Hodgkin–Huxley model of the generation of the action potential, ion …

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 …

Dravet syndrome is a severe epileptic encephalopathy, characterized by (febrile) seizures,
behavioural problems and developmental delay. Eighty per cent of patients with Dravet …

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 …

All movements are generated by the activation of motoneurons, and hence their input-output
properties define the final step in processing of all motor commands. A major challenge to …

Partial or complete loss-of-function variants in SCN5A are the most common genetic cause
of the arrhythmia disorder Brugada syndrome (BrS1). However, the pathogenicity of SCN5A …

Objective To elucidate the biophysical basis underlying the distinct and severe clinical
presentation in patients with the recurrent missense SCN1A variant, p. Thr226Met. Patients …

Understanding voltage-gated sodium (Nav) channels is significant since they generate
action potential. Nav channels consist of a pore domain (PD) and a voltage sensor domain …

Coordinated expression of ion channels is crucial for cardiac rhythms, neural signaling, and
cell cycle progression. Perturbation of this balance results in many disorders including …

Genetic conditions, even those associated with identical gene mutations, can present with
variable clinical manifestations. One widely accepted explanation for this phenomenon is …