The SCN4A gene provides instructions for making a critical part (the alpha subunit) of sodium channels that are abundant in muscles used for movement (skeletal muscles).

Mar 30, 2025 · SCN4A (Sodium Voltage-Gated Channel Alpha Subunit 4) is a Protein Coding gene. Diseases associated with SCN4A include Paramyotonia Congenita and Hyperkalemic Periodic Paralysis. Among its related pathways are Activation of cAMP-Dependent PKA and Neuropathic Pain-Signaling in Dorsal Horn Neurons.

The SCN4A gene encodes the alpha subunit of the skeletal muscle voltage-gated sodium channel Na (v)1.4. This channel is essential for the generation and propagation of the muscle action potential needed for muscle contraction (summary by Zaharieva et al., 2016).

Mutations in SCN4A encoding the voltage-gated sodium channel NaV1.4 have been implicated in a wide spectrum of neuromuscular disorders with variable onset, ranging from a rare form of congenital myasthenic syndrome to both hypokalemic and hyperkalemic forms of periodic paralysis and paramyotonia congenita.

The Nav1.4 voltage-gated sodium channel is encoded by the SCN4A gene. Mutations in the gene are associated with hypokalemic periodic paralysis, hyperkalemic periodic paralysis, paramyotonia congenita, and potassium-aggravated myotonia.

To identify novel disease modifiers, we performed an unbiased mutagenesis screen on an HD mouse model, identifying a mutation in the skeletal muscle voltage-gated sodium channel (Scn4a, termed 'draggen' mutation) as a novel disease enhancer.

SCN4A encodes the α -subunit of the voltage-gated sodium channel (NaV1.4) in skeletal muscles. Mutations in this gene are responsible for muscular sodium channelopathies, encompassing (non-dystrophic) sodium channel myotonia (SCM), hyperkalemic periodic paralysis (HyperPP), paramyotonia congenita (PMC) and a small percentage of hypokalemic ...

The nondystrophic myotonias are rare muscle hyperexcitability disorders caused by gain-of-function mutations in the SCN4A gene or loss-of-function mutations in the CLCN1 gene. Clinically, they are characterized by myotonia, defined as delayed muscle ...

Feb 8, 2025 · Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle.

Mar 3, 2020 · Skeletal muscle sodium channelopathies are caused by mutations in the SCN4A gene that impairs the ability of skeletal muscles to contract or relax. 1 The characteristic clinical features of autosomal dominant muscle sodium channelopathies are disabling attacks of either muscle paralysis or myotonia.