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 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 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 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: 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
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 UNIPROT Clinical Diversity of SCN4A-Mutation-Associated Skeletal Muscle Sodium Channelopathy. 20076800

2009
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
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
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
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
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: 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 A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis. 1659668

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
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 EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 20298421

2010
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 Mutations of sodium channel alpha-subunit genes in Chinese patients with normokalemic periodic paralysis. 18046642

2008