×
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
Hyperkalemic periodic paralysis
1.000
CausalMutation
CLINVAR
[Screening of genetic mutations in a Chinese pedigree affected with hypokalemic periodic paralysis].
29419865 2018
×
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
Hyperkalemic periodic paralysis
1.000
CausalMutation
CLINVAR
Sequence CLCN1 and SCN4A in patients with Nondystrophic myotonias in Chinese populations: Genetic and pedigree analysis of 10 families and review of the literature.
27415035 2017
×
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
Hyperkalemic periodic paralysis
1.000
GeneticVariation
CLINVAR
A SCN4A mutation causing paramyotonia congenita.
29111379 2017
×
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
Hyperkalemic periodic paralysis
1.000
CausalMutation
CLINVAR
A Large Dominant Myotonia Congenita Family with a V1293I Mutation in SCN4A.
27486940 2016
×
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
Hyperkalemic periodic paralysis
1.000
CausalMutation
CLINVAR
Flecainide-Responsive Myotonia Permanens With SNEL Onset: A New Case and Literature Review.
26944947 2016
×
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
Hyperkalemic periodic paralysis
1.000
CausalMutation
CLINVAR
Mutation analysis in exons 22 and 24 of SCN4A gene in Iranian patients with non-dystrophic myotonia.
26885337 2015
×
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
Hyperkalemic periodic paralysis
1.000
GeneticVariation
CLINVAR
Imaging alterations in skeletal muscle channelopathies: a study in 15 patients.
27199537 2015
×
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
Hyperkalemic periodic paralysis
1.000
CausalMutation
CLINVAR
Whole-Body Muscle MRI in Patients with Hyperkalemic Periodic Paralysis Carrying the SCN4A Mutation T704M: Evidence for Chronic Progressive Myopathy with Selective Muscle Involvement.
26256659 2015
×
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
Hyperkalemic periodic paralysis
1.000
CausalMutation
CLINVAR
Mutation analysis of CACNA1S and SCN4A in patients with hypokalemic periodic paralysis.
26252573 2015
×
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
Hyperkalemic periodic paralysis
1.000
CausalMutation
CLINVAR
Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 Comparison.
26834636 2015
×
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
Hyperkalemic periodic paralysis
1.000
CausalMutation
CLINVAR
Mutations of SCN4A gene cause different diseases: 2 case reports and literature review.
25839108 2015
×
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
Hyperkalemic periodic paralysis
1.000
CausalMutation
CLINVAR
Phenotypic variability in childhood of skeletal muscle sodium channelopathies.
25724373 2015
×
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
Hyperkalemic periodic paralysis
1.000
CausalMutation
CLINVAR
Phenotypic variation of Val1589Met mutation in a four-generation Chinese pedigree with mild paramyotonia congenitia: case report.
25755818 2015
×
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
Hyperkalemic periodic paralysis
1.000
CausalMutation
CLINVAR
Imaging alterations in skeletal muscle channelopathies: a study in 15 patients.
27199537 2015
×
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
Hyperkalemic periodic paralysis
1.000
CausalMutation
CLINVAR
Painful cramps and giant myotonic discharges in a family with the Nav1.4-G1306A mutation.
26080010 2015
×
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
Hyperkalemic periodic paralysis
1.000
CausalMutation
CLINVAR
Muscle edema of the lower limb determined by MRI in Asian hypokalaemic periodic paralysis patients.
25213595 2015
×
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
Hyperkalemic periodic paralysis
1.000
CausalMutation
CLINVAR
Enhanced slow inactivation of the human skeletal muscle sodium channel causing normokalemic periodic paralysis.
24682880 2014
×
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
Hyperkalemic periodic paralysis
1.000
CausalMutation
CLINVAR
Disrupted coupling of gating charge displacement to Na+ current activation for DIIS4 mutations in hypokalemic periodic paralysis.
25024265 2014
×
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
Hyperkalemic periodic paralysis
1.000
CausalMutation
CLINVAR
Contractile abnormalities of mouse muscles expressing hyperkalemic periodic paralysis mutant NaV1.4 channels do not correlate with Na+ influx or channel content.
24714718 2014
×
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
Hyperkalemic periodic paralysis
1.000
CausalMutation
CLINVAR
Heterozygous CLCN1 mutations can modulate phenotype in sodium channel myotonia.
25088311 2014
×
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
Hyperkalemic periodic paralysis
1.000
CausalMutation
CLINVAR
[Normokalemic periodic paralysis lasting for two weeks: a severe form of sodium channelopathy with M1592V mutation].
24943082 2014
×
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
Hyperkalemic periodic paralysis
1.000
CausalMutation
CLINVAR
Focal and abnormally persistent paralysis associated with congenital paramyotonia.
24939454 2014
×
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
Hyperkalemic periodic paralysis
1.000
CausalMutation
CLINVAR
Mutations in SCN4A: a rare but treatable cause of recurrent life-threatening laryngospasm.
25311598 2014
×
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
Hyperkalemic periodic paralysis
1.000
CausalMutation
CLINVAR
NaV1.4 mutations cause hypokalaemic periodic paralysis by disrupting IIIS4 movement during recovery.
24549961 2014
×
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
Hyperkalemic periodic paralysis
1.000
CausalMutation
CLINVAR
Gender differences in penetrance and phenotype in hypokalemic periodic paralysis.
23019082 2013