×
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
The observation of a distinct mutation that cosegregates with HYPP in two families and appears as a de novo mutation in a third establishes SCN4A as the HYPP gene.
1659948 1991
×
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
Hyperkalemic periodic paralysis
1.000
CausalMutation
CLINVAR
Genetic analysis of nine HYPP families has shown tight linkage between the adult skeletal muscle sodium channel alpha-subunit gene on chromosome 17q and the disease (lod score, z = 24; recombination frequency 0 = 0), strongly suggesting that mutations of the alpha-subunit gene cause HYPP .
1659668 1991
×
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
Hyperkalemic periodic paralysis
1.000
CausalMutation
CLINVAR
Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel.
1338909 1992
×
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
Hyperkalemic periodic paralysis
1.000
CausalMutation
CLINVAR
Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita.
1316765 1992
×
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
Hyperkalemic periodic paralysis
1.000
CausalMutation
CLINVAR
Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita.
1310898 1992
×
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
Hyperkalemic periodic paralysis
1.000
CausalMutation
CLINVAR
Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III-IV linker.
8308722 1993
×
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
Sodium channel mutations in paramyotonia congenita uncouple inactivation from activation.
8110459 1994
×
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
Hyperkalemic periodic paralysis
1.000
CausalMutation
CLINVAR
Myotonia fluctuans. A third type of muscle sodium channel disease.
7980103 1994
×
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
Hyperkalemic periodic paralysis
1.000
CausalMutation
CLINVAR
Sodium channel mutations in paramyotonia congenita exhibit similar biophysical phenotypes in vitro.
7809121 1994
×
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
Hyperkalemic periodic paralysis
1.000
CausalMutation
CLINVAR
Molecular and genetic characterisation of German families with paramyotonia congenita and demonstration of founder effect in the Ravensberg families.
8005599 1994
×
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
Hyperkalemic periodic paralysis
1.000
CausalMutation
CLINVAR
Mutations in the muscle sodium channel gene (SCN4A) in 13 French families with hyperkalemic periodic paralysis and paramyotonia congenita: phenotype to genotype correlations and demonstration of the predominance of two mutations.
8044656 1994
×
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
Hyperkalemic periodic paralysis
1.000
CausalMutation
CLINVAR
In vivo sodium channel structure/function studies: consecutive Arg1448 changes to Cys, His, and Pro at the extracellular surface of IVS4.
7676326 1995
×
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
Paramyotonia congenita without paralysis on exposure to cold: a novel mutation in the SCN4A gene (Val1293Ile).
8580427 1995
×
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
Hyperkalemic periodic paralysis
1.000
CausalMutation
CLINVAR
Paramyotonia congenita: the R1448P Na+ channel mutation in adult human skeletal muscle.
8619545 1996
×
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
Hyperkalemic periodic paralysis
1.000
CausalMutation
CLINVAR
Two human paramyotonia congenita mutations have opposite effects on lidocaine block of Na+ channels expressed in a mammalian cell line.
8910215 1996
×
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
Hyperkalemic periodic paralysis
1.000
CausalMutation
CLINVAR
Paramyotonia congenita: genotype to phenotype correlations in two families and report of a new mutation in the sodium channel gene.
8902732 1996
×
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
Hyperkalemic periodic paralysis
1.000
CausalMutation
CLINVAR
Paramyotonia congenita and hyperkalemic periodic paralysis associated with a Met 1592 Val substitution in the skeletal muscle sodium channel alpha subunit--a large kindred with a novel phenotype.
9131651 1997
×
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 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
Familial cramp due to potassium-aggravated myotonia.
9771789 1998
×
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
Hyperkalemic periodic paralysis
1.000
CausalMutation
CLINVAR
Human sodium channel gating defects caused by missense mutations in S6 segments associated with myotonia: S804F and V1293I.
9660885 1998
×
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
Hyperkalemic periodic paralysis
1.000
CausalMutation
CLINVAR
Functional expression of the Ile693Thr Na+ channel mutation associated with paramyotonia congenita in a human cell line.
9508833 1998