DisGeNET - a database of gene-disease associations

SCN4A, sodium voltage-gated channel alpha subunit 4, 6329

N. diseases: 202; N. variants: 58

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs80338957

Entrez Id:	6329
Gene Symbol:	SCN4A

SCN4A

CUI:	C0238357
Disease:

Hyperkalemic periodic paralysis

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

Entrez Id:	6329
Gene Symbol:	SCN4A

SCN4A

CUI:	C0238357
Disease:

Hyperkalemic periodic paralysis

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

Entrez Id:	6329
Gene Symbol:	SCN4A

SCN4A

CUI:	C0238357
Disease:

Hyperkalemic periodic paralysis

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

Entrez Id:	6329
Gene Symbol:	SCN4A

SCN4A

CUI:	C0238357
Disease:

Hyperkalemic periodic paralysis

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

Entrez Id:	6329
Gene Symbol:	SCN4A

SCN4A

CUI:	C0238357
Disease:

Hyperkalemic periodic paralysis

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:

rs121908544

Entrez Id:	6329
Gene Symbol:	SCN4A

SCN4A

CUI:	C0221055
Disease:

Paramyotonia Congenita (disorder)

0.850

GeneticVariation

UNIPROT

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

20298421

2010

dbSNP:

rs80338957

Entrez Id:	6329
Gene Symbol:	SCN4A

SCN4A

CUI:	C0238357
Disease:

Hyperkalemic periodic paralysis

0.850

GeneticVariation

UNIPROT

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

20298421

2010

dbSNP:

rs121908544

Entrez Id:	6329
Gene Symbol:	SCN4A

SCN4A

CUI:	C0221055
Disease:

Paramyotonia Congenita (disorder)

0.850

GeneticVariation

UNIPROT

Tubular aggregates in paralysis periodica paramyotonica with T704M mutation of SCN4A.

19077043

2009

dbSNP:

rs121908544

Entrez Id:	6329
Gene Symbol:	SCN4A

SCN4A

CUI:	C0221055
Disease:

Paramyotonia Congenita (disorder)

0.850

GeneticVariation

UNIPROT

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

20076800

2009

dbSNP:

rs80338957

Entrez Id:	6329
Gene Symbol:	SCN4A

SCN4A

CUI:	C0238357
Disease:

Hyperkalemic periodic paralysis

0.850

GeneticVariation

UNIPROT

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

20076800

2009

dbSNP:

rs80338957

Entrez Id:	6329
Gene Symbol:	SCN4A

SCN4A

CUI:	C0238357
Disease:

Hyperkalemic periodic paralysis

0.850

CausalMutation

CLINVAR

Tubular aggregates in paralysis periodica paramyotonica with T704M mutation of SCN4A.

19077043

2009

dbSNP:

rs121908544

Entrez Id:	6329
Gene Symbol:	SCN4A

SCN4A

CUI:	C0221055
Disease:

Paramyotonia Congenita (disorder)

0.850

GeneticVariation

UNIPROT

Differential effects of paramyotonia congenita mutations F1473S and F1705I on sodium channel gating.

18690054

2008

dbSNP:

rs121908544

Entrez Id:	6329
Gene Symbol:	SCN4A

SCN4A

CUI:	C0221055
Disease:

Paramyotonia Congenita (disorder)

0.850

GeneticVariation

UNIPROT

What causes paramyotonia in the United Kingdom? Common and new SCN4A mutations revealed.

18166706

2008

dbSNP:

rs80338957

Entrez Id:	6329
Gene Symbol:	SCN4A

SCN4A

CUI:	C0238357
Disease:

Hyperkalemic periodic paralysis

0.850

CausalMutation

CLINVAR

Genotype-phenotype correlation and therapeutic rationale in hyperkalemic periodic paralysis.

17395131

2007

dbSNP:

rs121908544

Entrez Id:	6329
Gene Symbol:	SCN4A

SCN4A

CUI:	C0221055
Disease:

Paramyotonia Congenita (disorder)

0.850

GeneticVariation

BEFREE

This case demonstrates that SCN4A Arg1448Cys can produce paralysis periodica paramyotonica.

16801039

2006

dbSNP:

rs121908544

Entrez Id:	6329
Gene Symbol:	SCN4A

SCN4A

CUI:	C0221055
Disease:

Paramyotonia Congenita (disorder)

0.850

GeneticVariation

UNIPROT

Cold extends electromyography distinction between ion channel mutations causing myotonia.

16786525

2006

dbSNP:

rs121908544

Entrez Id:	6329
Gene Symbol:	SCN4A

SCN4A

CUI:	C0221055
Disease:

Paramyotonia Congenita (disorder)

0.850

GeneticVariation

UNIPROT

A1152D mutation of the Na+ channel causes paramyotonia congenita and emphasizes the role of DIII/S4-S5 linker in fast inactivation.

15790667

2005

dbSNP:

rs80338957

Entrez Id:	6329
Gene Symbol:	SCN4A

SCN4A

CUI:	C0238357
Disease:

Hyperkalemic periodic paralysis

0.850

CausalMutation

CLINVAR

Familial periodic paralysis and Charcot-Marie-Tooth disease in a 7-generation family.

15642860

2005

dbSNP:

rs121908544

Entrez Id:	6329
Gene Symbol:	SCN4A

SCN4A

CUI:	C0221055
Disease:

Paramyotonia Congenita (disorder)

0.850

GeneticVariation

UNIPROT

Temperature-sensitive defects in paramyotonia congenita mutants R1448C and T1313M.

15318338

2004

dbSNP:

rs121908544

Entrez Id:	6329
Gene Symbol:	SCN4A

SCN4A

CUI:	C0221055
Disease:

Paramyotonia Congenita (disorder)

0.850

GeneticVariation

BEFREE

The authors report a family where the proband and three of her four children have PC (mutation R1448C) and present repolarization abnormalities at electrocardiogram.

12552059

2003

dbSNP:

rs80338957

Entrez Id:	6329
Gene Symbol:	SCN4A

SCN4A

CUI:	C0238357
Disease:

Hyperkalemic periodic paralysis

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:

rs121908544

Entrez Id:	6329
Gene Symbol:	SCN4A

SCN4A

CUI:	C0221055
Disease:

Paramyotonia Congenita (disorder)

0.850

GeneticVariation

BEFREE

A Korean family with Arg1448Cys mutation of SCN4A channel causing paramyotonia congenita: electrophysiologic, histopathologic, and molecular genetic studies.

12483017

2002

dbSNP:

rs121908544

Entrez Id:	6329
Gene Symbol:	SCN4A

SCN4A

CUI:	C0221055
Disease:

Paramyotonia Congenita (disorder)

0.850

GeneticVariation

UNIPROT

Clinical, electrophysiological, and molecular genetic studies in a new family with paramyotonia congenita.

10727489

2000

dbSNP:

rs121908544

Entrez Id:	6329
Gene Symbol:	SCN4A

SCN4A

CUI:	C0221055
Disease:

Paramyotonia Congenita (disorder)

0.850

GeneticVariation

UNIPROT

A novel mutation in the gene for the adult skeletal muscle sodium channel alpha-subunit (SCN4A) that causes paramyotonia congenita of von Eulenburg.

10369308

1999

dbSNP:

rs80338957

Entrez Id:	6329
Gene Symbol:	SCN4A

SCN4A

CUI:	C0238357
Disease:

Hyperkalemic periodic paralysis

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