Gene: SCN4A ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338957
rs80338957
SCN4A
A 0.850 CausalMutation CLINVAR We performed whole-body muscle MRI in seven hyperKPP patients carrying the T704M mutation in the SCN4A skeletal sodium-channel gene. 26256659

2015
dbSNP: rs80338957
rs80338957
SCN4A
A 0.850 CausalMutation CLINVAR Here, we report the case of a 16-year-old girl with HYPP whose mutational analysis revealed a heterozygous c.2111C>T substitution in the SCN4A gene leading to a Thr704Met mutation in the protein sequence. 22253644

2011
dbSNP: rs80338957
rs80338957
SCN4A
A 0.850 CausalMutation CLINVAR Tubular aggregates in paralysis periodica paramyotonica with T704M mutation of SCN4A. 19077043

2009
dbSNP: rs80338957
rs80338957
SCN4A
A 0.850 CausalMutation CLINVAR Genotype-phenotype correlation and therapeutic rationale in hyperkalemic periodic paralysis. 17395131

2007
dbSNP: rs80338957
rs80338957
SCN4A
A 0.850 CausalMutation CLINVAR Familial periodic paralysis and Charcot-Marie-Tooth disease in a 7-generation family. 15642860

2005
dbSNP: rs80338957
rs80338957
SCN4A
A 0.850 CausalMutation CLINVAR These results, showing that the I1495F and T704M hyperkalaemic periodic paralysis mutations both have profound effects on channel activation and fast-slow inactivation, suggest that the S5 segment maybe in a location where fast and slow inactivation converge. 10366610

1999
dbSNP: rs80338957
rs80338957
SCN4A
A 0.850 CausalMutation CLINVAR Sodium channel mutations in paramyotonia congenita exhibit similar biophysical phenotypes in vitro. 7809121

1994
dbSNP: rs80338957
rs80338957
SCN4A
A 0.850 CausalMutation CLINVAR Identification of a mutation in the gene causing hyperkalemic periodic paralysis. 1659948

1991
dbSNP: rs80338962
rs80338962
SCN4A
C 0.820 CausalMutation CLINVAR [Normokalemic periodic paralysis lasting for two weeks: a severe form of sodium channelopathy with M1592V mutation]. 24943082

2014
dbSNP: rs80338962
rs80338962
SCN4A
C 0.820 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
dbSNP: rs80338962
rs80338962
SCN4A
C 0.820 CausalMutation CLINVAR A patient with mutation in the SCN4A p.M1592v presenting with fixed weakness, rhabdomyolysis, and episodic worsening of weakness. 23801527

2013
dbSNP: rs80338962
rs80338962
SCN4A
C 0.820 CausalMutation CLINVAR Severe phenotypes of paralysis periodica paramyotonia are associated with the Met1592Val mutation in the voltage-gated sodium channel gene (SCN4A) in a Chinese family. 21665479

2011
dbSNP: rs80338962
rs80338962
SCN4A
C 0.820 CausalMutation CLINVAR Mutations of sodium channel alpha-subunit genes in Chinese patients with normokalemic periodic paralysis. 18046642

2008
dbSNP: rs80338962
rs80338962
SCN4A
C 0.820 CausalMutation CLINVAR One such substitution, methionine for valine at position 1592, has been associated with HyperPP with myotonia and cold sensitivity. 9131651

1997
dbSNP: rs80338962
rs80338962
SCN4A
C 0.820 CausalMutation CLINVAR In addition, the close-by occurring substitution of valine for methionine at position 1592 known to cause hyperkalemic periodic paralysis was deduced for six families with the myotonic, non-dystrophic form of this disease. 8242056

1993
dbSNP: rs80338962
rs80338962
SCN4A
C 0.820 CausalMutation CLINVAR A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis. 1659668

1991
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
T 0.800 CausalMutation CLINVAR Mutations of SCN4A gene cause different diseases: 2 case reports and literature review. 25839108

2015
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
T 0.800 CausalMutation CLINVAR Enhanced slow inactivation of the human skeletal muscle sodium channel causing normokalemic periodic paralysis. 24682880

2014
dbSNP: rs121908556
rs121908556
SCN4A ; LOC105371858
C 0.800 CausalMutation CLINVAR In 4 hyperKPP patients from 2 families, molecular analyses revealed Arg675Gly and Arg675Gln mutations of SCN4A, which were previously reported to cause normoKPP. 22926674

2012
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
T 0.800 CausalMutation CLINVAR In 4 hyperKPP patients from 2 families, molecular analyses revealed Arg675Gly and Arg675Gln mutations of SCN4A, which were previously reported to cause normoKPP. 22926674

2012
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
T 0.800 CausalMutation CLINVAR K+-dependent paradoxical membrane depolarization and Na+ overload, major and reversible contributors to weakness by ion channel leaks. 19225109

2009
dbSNP: rs121908556
rs121908556
SCN4A ; LOC105371858
C 0.800 CausalMutation CLINVAR Depolarization-activated gating pore current conducted by mutant sodium channels in potassium-sensitive normokalemic periodic paralysis. 19052238

2008
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
T 0.800 CausalMutation CLINVAR Depolarization-activated gating pore current conducted by mutant sodium channels in potassium-sensitive normokalemic periodic paralysis. 19052238

2008
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
T 0.800 CausalMutation CLINVAR Mutations of sodium channel alpha-subunit genes in Chinese patients with normokalemic periodic paralysis. 18046642

2008
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
T 0.800 CausalMutation CLINVAR [The construction and preliminary investigation of the cell model of a novel mutation R675Q in the SCN4A gene identified in a Chinese family with normokalemic periodic paralysis]. 19065518

2008