Gene: SCN4A ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338957
rs80338957
SCN4A
0.850 GeneticVariation UNIPROT Clinical Diversity of SCN4A-Mutation-Associated Skeletal Muscle Sodium Channelopathy. 20076800

2009
dbSNP: rs80338957
rs80338957
SCN4A
0.850 GeneticVariation UNIPROT Identification of a mutation in the gene causing hyperkalemic periodic paralysis. 1659948

1991
dbSNP: rs80338957
rs80338957
SCN4A
0.850 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 20298421

2010
dbSNP: rs80338957
rs80338957
SCN4A
0.850 GeneticVariation BEFREE Lower-extremity magnetic resonance imaging in patients with hyperkalemic periodic paralysis carrying the SCN4A mutation T704M: 30-month follow-up of seven patients. 30172468

2018
dbSNP: rs80338957
rs80338957
SCN4A
0.850 GeneticVariation BEFREE 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
0.850 GeneticVariation UNIPROT A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis. 1659668

1991
dbSNP: rs80338957
rs80338957
SCN4A
0.850 GeneticVariation BEFREE These data further broaden the clinical spectrum of T704M and support the evidence that this mutation is a common cause of hyperPP/PMC. 12933953

2003
dbSNP: rs80338957
rs80338957
SCN4A
0.850 GeneticVariation BEFREE The first proband and part of his family with the overlap of PMC and hyperkalemic periodic paralysis (HyperPP) has been identified as c.2111C > T (T704M) substitution of the gene SCN4A. 30931713

2019
dbSNP: rs80338957
rs80338957
SCN4A
0.850 GeneticVariation BEFREE Our case demonstrates the efficacy of hydrochlorothiazide in the prophylactic treatment of normoKPP caused by the SCN4A mutation of p.Thr704Met, the most frequent mutation of hyperKPP. 29907477

2018
dbSNP: rs80338962
rs80338962
SCN4A
0.820 GeneticVariation UNIPROT Mutations of sodium channel alpha-subunit genes in Chinese patients with normokalemic periodic paralysis. 18046642

2008
dbSNP: rs80338962
rs80338962
SCN4A
0.820 GeneticVariation UNIPROT Both hypokalaemic and normokalaemic periodic paralysis in different members of a single family with novel R1129Q mutation in SCN4A gene. 20522878

2010
dbSNP: rs80338962
rs80338962
SCN4A
0.820 GeneticVariation UNIPROT A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis. 1659668

1991
dbSNP: rs80338962
rs80338962
SCN4A
0.820 GeneticVariation UNIPROT Clinical Diversity of SCN4A-Mutation-Associated Skeletal Muscle Sodium Channelopathy. 20076800

2009
dbSNP: rs80338962
rs80338962
SCN4A
0.820 GeneticVariation UNIPROT Identification of a mutation in the gene causing hyperkalemic periodic paralysis. 1659948

1991
dbSNP: rs80338962
rs80338962
SCN4A
0.820 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 20298421

2010
dbSNP: rs80338962
rs80338962
SCN4A
0.820 GeneticVariation BEFREE 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
0.820 GeneticVariation BEFREE 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
0.820 GeneticVariation UNIPROT New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis. 15596759

2004
dbSNP: rs121908556
rs121908556
SCN4A ; LOC105371858
0.800 GeneticVariation UNIPROT New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis. 15596759

2004
dbSNP: rs121908556
rs121908556
SCN4A ; LOC105371858
0.800 GeneticVariation UNIPROT Both hypokalaemic and normokalaemic periodic paralysis in different members of a single family with novel R1129Q mutation in SCN4A gene. 20522878

2010
dbSNP: rs121908556
rs121908556
SCN4A ; LOC105371858
0.800 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 20298421

2010
dbSNP: rs121908556
rs121908556
SCN4A ; LOC105371858
0.800 GeneticVariation UNIPROT Mutations of sodium channel alpha-subunit genes in Chinese patients with normokalemic periodic paralysis. 18046642

2008
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
0.800 GeneticVariation UNIPROT Both hypokalaemic and normokalaemic periodic paralysis in different members of a single family with novel R1129Q mutation in SCN4A gene. 20522878

2010
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
0.800 GeneticVariation UNIPROT Mutations of sodium channel alpha-subunit genes in Chinese patients with normokalemic periodic paralysis. 18046642

2008
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
0.800 GeneticVariation UNIPROT New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis. 15596759

2004