×
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
Hyperkalemic periodic paralysis
1.000
CausalMutation
CLINVAR
Enhanced inactivation and pH sensitivity of Na(+) channel mutations causing hypokalaemic periodic paralysis type II.
11912116 2002
×
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
Extraocular muscle hypertrophy in myotonia congenita: Mutation identified in the SCN4A gene (V445M).
19840739 2009
×
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
Familial hyperkalemic periodic paralysis caused by a de novo mutation in the sodium channel gene SCN4A.
22253644 2011
×
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
Hyperkalemic periodic paralysis
1.000
CausalMutation
CLINVAR
Familial periodic paralysis and Charcot-Marie-Tooth disease in a 7-generation family.
15642860 2005
×
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
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
Functional consequences of a domain 1/S6 segment sodium channel mutation associated with painful congenital myotonia.
10218481 1999
×
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
×
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
Hyperkalemic periodic paralysis
1.000
CausalMutation
CLINVAR
Gating defects of a novel Na+ channel mutant causing hypokalemic periodic paralysis.
16890191 2006
×
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
Hyperkalemic periodic paralysis
1.000
CausalMutation
CLINVAR
Gating pore current in an inherited ion channelopathy.
17330043 2007
×
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
Hyperkalemic periodic paralysis
1.000
CausalMutation
CLINVAR
Gating pore currents in DIIS4 mutations of NaV1.4 associated with periodic paralysis: saturation of ion flux and implications for disease pathogenesis.
18824591 2008
×
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
×
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
Genotype and phenotype analysis of patients with sporadic periodic paralysis.
21841462 2012
×
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
Hyperkalemic periodic paralysis
1.000
CausalMutation
CLINVAR
Genotype-phenotype correlation and therapeutic rationale in hyperkalemic periodic paralysis.
17395131 2007
×
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
Homozygosity for dominant mutations increases severity of muscle channelopathies.
19882638 2010
×
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
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
Human voltage-gated sodium channel mutations that cause inherited neuronal and muscle channelopathies increase resurgent sodium currents.
20038812 2010
×
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
Hyperkalemic periodic paralysis
1.000
CausalMutation
CLINVAR
Hyperkalemic periodic paralysis and paramyotonia congenita--a novel sodium channel mutation.
11757950 2001
×
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
Hyperkalemic periodic paralysis
1.000
CausalMutation
CLINVAR
Hypokalemic periodic paralysis; two different genes responsible for similar clinical manifestations.
22253645 2011
×
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