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). For the body to …

2024年12月25日 · SCN4A (Sodium Voltage-Gated Channel Alpha Subunit 4) is a Protein Coding gene. Diseases associated with SCN4A include Paramyotonia Congenita and Hyperkalemic …

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 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 …

2003年7月18日 · The diagnosis of hyperPP is established in a proband with suggestive findings and a heterozygous pathogenic variant in SCN4A identified by molecular genetic testing. In …

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 Na v 1.4 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 …

2025年2月8日 · Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more …

2020年3月3日 · 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 …