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 Periodic Paralysis. Among its related pathways are Activation of cAMP-Dependent PKA and Neuropathic Pain-Signaling in Dorsal Horn Neurons.

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 move, these muscles must tense (contract) and relax in a coordinated way.

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).

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 case of diagnostic uncertainty, a provocative test can be employed, although the availability of genetic testing and electrophysiologic studies largely obviates the need for ...

电压门控钠通道是由具有 24 个跨膜结构域的大 α 亚基和一个或多个调节性 β 亚基组成的跨膜糖蛋白复合物。 它们负责神经元和肌肉中动作电位的产生和传播。 该基因编码钠通道α亚基基因家族的一个成员。 它在骨骼肌中表达，该基因的突变与几种肌强直和周期性麻痹疾病有关。 [RefSeq 提供，2008 年 7 月] Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more …

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.

Identification of a SCN4A mutation in a large Chinese family with atypical normokalemic periodic paralysis using whole-exome sequencing. Potential predictive value of SCN4A mutation status for immune checkpoint inhibitors in melanoma. [A novel mutation of SCN4A gene causes hypokalemic periodic paralysis in a Chinese family].

2018年10月17日 · 骨骼肌钠通道病和钠通道的α亚单位基因（SCN4A）突变有关，从1990年 Fontaines首次在SCN4A基因发现致病突变以来[3]，目前发现了大约60余种SCN4A基因突变形式。

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 regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle.

电压门控钠通道是跨膜糖蛋白复合物，由具有24个跨膜结构域的大型α亚基和一个或多个调节性β亚基组成。 它们负责神经元和平肌细胞中动作电位的产生和传播。 该基因编码钠通道α亚基基因家族的一个成员。 它表达于骨骼肌中，该基因的突变与几种肌强直和周期性瘫痪疾病有关。 [由RefSeq，2008年7月提供] Dir./Indir. ... A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis.