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 …

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 …

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 …

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, …

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 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 …

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. …

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 …

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 …