×
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
Hyperkalemic periodic paralysis
1.000
CausalMutation
CLINVAR
A case of paramyotonia congenita without periodic paralysis: electrophysiological and molecular genetic studies.
20445432 2010
×
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
A large German kindred with cold-aggravated myotonia and a heterozygous A1481D mutation in the SCN4A gene.
17212350 2007
×
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
Hyperkalemic periodic paralysis
1.000
CausalMutation
CLINVAR
A novel muscle sodium channel mutation causes painful congenital myotonia.
9392583 1997
×
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
Hyperkalemic periodic paralysis
1.000
CausalMutation
CLINVAR
A novel N440K sodium channel mutation causes myotonia with exercise-induced weakness--exclusion of CLCN1 exon deletion/duplication by MLPA.
22106717 2011
×
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
Hyperkalemic periodic paralysis
1.000
CausalMutation
CLINVAR
A novel SCN4A mutation causing myotonia aggravated by cold and potassium.
8242056 1993
×
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
Hyperkalemic periodic paralysis
1.000
CausalMutation
CLINVAR
A novel sodium channel mutation causing a hyperkalemic paralytic and paramyotonic syndrome with variable clinical expressivity.
9339683 1997
×
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
Hyperkalemic periodic paralysis
1.000
CausalMutation
CLINVAR
A novel sodium channel mutation in a family with hypokalemic periodic paralysis.
10599760 1999
×
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
Hyperkalemic periodic paralysis
1.000
CausalMutation
CLINVAR
A patient with episodic ataxia and paramyotonia congenita due to mutations in KCNA1 and SCN4A.
19770477 2009
×
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
Hyperkalemic periodic paralysis
1.000
CausalMutation
CLINVAR
A patient with mutation in the SCN4A p.M1592v presenting with fixed weakness, rhabdomyolysis, and episodic worsening of weakness.
23801527 2013
×
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 sodium channel knockin mutant (NaV1.4-R669H) mouse model of hypokalemic periodic paralysis.
21881211 2011
×
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
Hyperkalemic periodic paralysis
1.000
CausalMutation
CLINVAR
A1152D mutation of the Na+ channel causes paramyotonia congenita and emphasizes the role of DIII/S4-S5 linker in fast inactivation.
15790667 2005
×
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
Hyperkalemic periodic paralysis
1.000
CausalMutation
CLINVAR
Activation and inactivation of the voltage-gated sodium channel: role of segment S5 revealed by a novel hyperkalaemic periodic paralysis mutation.
10366610 1999
×
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
Hyperkalemic periodic paralysis
1.000
CausalMutation
CLINVAR
Altered fast and slow inactivation of the N440K Nav1.4 mutant in a periodic paralysis syndrome.
22914841 2012
×
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
Hyperkalemic periodic paralysis
1.000
CausalMutation
CLINVAR
An atypical phenotype of hypokalemic periodic paralysis caused by a mutation in the sodium channel gene SCN4A.
21189962 2010
×
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
Hyperkalemic periodic paralysis
1.000
CausalMutation
CLINVAR
Autosomal dominant monosymptomatic myotonia permanens.
16832098 2006
×
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
Hyperkalemic periodic paralysis
1.000
CausalMutation
CLINVAR
Characterization of a new sodium channel mutation at arginine 1448 associated with moderate Paramyotonia congenita in humans.
10381583 1999
×
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
Hyperkalemic periodic paralysis
1.000
CausalMutation
CLINVAR
Clinical Diversity of SCN4A-Mutation-Associated Skeletal Muscle Sodium Channelopathy.
20076800 2009
×
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
Hyperkalemic periodic paralysis
1.000
CausalMutation
CLINVAR
Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians.
18337100 2009
×
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
Depolarization-activated gating pore current conducted by mutant sodium channels in potassium-sensitive normokalemic periodic paralysis.
19052238 2008
×
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
Hyperkalemic periodic paralysis
1.000
CausalMutation
CLINVAR
Detection of high-risk groups and individuals for periodontal diseases.
2649440 1989
×
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
Hyperkalemic periodic paralysis
1.000
CausalMutation
CLINVAR
Different effects on gating of three myotonia-causing mutations in the inactivation gate of the human muscle sodium channel.
7473241 1995
×
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