Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
0.100 GeneticVariation disease BEFREE The latter effect may form the basis for Ca<sup>2+</sup>-dependent Na<sup>+</sup> channel dysregulation in SCN4A channelopathies associated with cold- and K<sup>+</sup>-aggravated myotonias. 30760734 2019
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
0.100 GeneticVariation disease BEFREE Pain in SCN4A Mutated P.A1156T muscle sodium channelopathy-a postal survey. 29272040 2018
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
0.100 GeneticVariation disease BEFREE In this study, we investigated whether cardiac arrhythmias or channelopathies such as Brugada syndrome can be part of the clinical phenotype associated with SCN4A variants and whether patients with Brugada syndrome present with non-dystrophic myotonia or periodic paralysis and related gene mutations. 26036855 2016
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
0.100 Biomarker disease BEFREE In 2 patients (1%), EMG studies demonstrated myotonia, and muscle biopsy showed mild myopathic features; 1 patient had myotonic dystrophy type 2, and the other had SCN4A-related muscle channelopathy. 27104891 2016
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
0.100 Biomarker disease BEFREE In this report, for the first time, we associated the genetic variability of SCN4A with the development of essential tremor, which adds ET to the growing list of neurological channelopathies. 26427606 2015
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
0.100 Biomarker disease BEFREE The relationship between two phenotypes and SCN4A has been confirmed with additional cases that remain extremely rare: severe neonatal episodic laryngospasm mimicking encephalopathy, which should be actively searched for since patients respond well to sodium channel blockers; congenital myasthenic syndromes, which have the particularity to be the first recessive Nav1.4 channelopathy. 26285000 2015
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
0.100 GeneticVariation disease BEFREE SCN4A encodes the Nav1.4 channel and mutations in SCN4A lead to different ionic channelopathies. 25839108 2015
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
0.100 GeneticVariation disease BEFREE Mutations of the SCN4A gene cause several skeletal muscle channelopathies and overlapping forms of these disorders. 25724373 2015
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
0.100 GeneticVariation disease BEFREE Mutations in the skeletal muscle channel (SCN4A), encoding the Nav1.4 voltage-gated sodium channel, are causative of a variety of muscle channelopathies, including non-dystrophic myotonias and periodic paralysis. 25348630 2014
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
0.100 GeneticVariation disease BEFREE We describe the first distinctive clinical genotype-phenotype correlation within NaCh: a strictly isolated eyelid closure myotonia associated with the L250P mutation in SCN4A. 19876661 2010
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
0.100 GeneticVariation disease BEFREE Hypokalaemic periodic paralysis (HypoKPP) is a skeletal muscle channelopathy caused by mutations in calcium (CACNA1S) and sodium (SCN4A) channel subunits. 17418573 2007
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
0.100 GeneticVariation disease BEFREE This phenotype is clearly different from classical paramyotonia congenita Eulenburg, which has been shown to be a sodium channelopathy resulting from mutations in the gene for the alpha-subunit of the human skeletal muscle sodium channel gene (SCN4A). 8580427 1995