Gene: SCN4A

Alternate names for this Gene: CMS16|HOKPP2|HYKPP|HYPP|NAC1A|Na(V)1.4|Nav1.4|SkM1

Gene Summary: Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. It is expressed in skeletal muscle, and mutations in this gene have been linked to several myotonia and periodic paralysis disorders.

Gene is located in Chromosome: 17

Location in Chromosome : 17q23.3

Description of this Gene: sodium voltage-gated channel alpha subunit 4

Type of Gene: protein-coding

Gene: LOC105371858

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

rs121908557 in SCN4A;LOC105371858 gene and Abnormal delivery PMID 15596759 2004 New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis.

PMID 19065518 2008 [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].

rs121908557 in SCN4A;LOC105371858 gene and Anteverted nostril PMID 15596759 2004 New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis.

PMID 19065518 2008 [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].

rs121908557 in SCN4A;LOC105371858 gene and Atrial Septal Defects PMID 19065518 2008 [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].

PMID 15596759 2004 New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis.

rs121908557 in SCN4A;LOC105371858 gene and Byzanthine arch palate PMID 19065518 2008 [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].

PMID 15596759 2004 New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis.

rs121908557 in SCN4A;LOC105371858 gene and Deglutition Disorders PMID 15596759 2004 New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis.

PMID 19065518 2008 [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].

rs121908557 in SCN4A;LOC105371858 gene and Diminished movement PMID 15596759 2004 New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis.

PMID 19065518 2008 [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].

rs121908557 in SCN4A;LOC105371858 gene and Gastrostomy tube feeding in infancy PMID 15596759 2004 New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis.

PMID 19065518 2008 [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].

rs121908557 in SCN4A;LOC105371858 gene and Gross motor development delay PMID 19065518 2008 [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].

PMID 15596759 2004 New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis.

rs121908552 in SCN4A;LOC105371858 gene and Hyperkalemic periodic paralysis PMID 9392583 1997 A novel muscle sodium channel mutation causes painful congenital myotonia.

PMID 27199537 2015 Imaging alterations in skeletal muscle channelopathies: a study in 15 patients.

PMID 17334961 2007 Warm-up phenomenon in myotonia associated with the V445M sodium channel mutation.

PMID 22653516 2012 Myotonia congenita with strabismus in a large family with a mutation in the SCN4A gene.

PMID 25839108 2015 Mutations of SCN4A gene cause different diseases: 2 case reports and literature review.

PMID 25724373 2015 Phenotypic variability in childhood of skeletal muscle sodium channelopathies.

PMID 11744749 2001 Mexiletine block of disease-associated mutations in S6 segments of the human skeletal muscle Na(+) channel.

PMID 19840739 2009 Extraocular muscle hypertrophy in myotonia congenita: Mutation identified in the SCN4A gene (V445M).

PMID 10218481 1999 Functional consequences of a domain 1/S6 segment sodium channel mutation associated with painful congenital myotonia.

PMID 19065518 2008 [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].

PMID 19225109 2009 K+-dependent paradoxical membrane depolarization and Na+ overload, major and reversible contributors to weakness by ion channel leaks.

PMID 18046642 2008 Mutations of sodium channel alpha-subunit genes in Chinese patients with normokalemic periodic paralysis.

PMID 15596759 2004 New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis.

PMID 19052238 2008 Depolarization-activated gating pore current conducted by mutant sodium channels in potassium-sensitive normokalemic periodic paralysis.

PMID 24682880 2014 Enhanced slow inactivation of the human skeletal muscle sodium channel causing normokalemic periodic paralysis.

PMID 20522878 2010 Both hypokalaemic and normokalaemic periodic paralysis in different members of a single family with novel R1129Q mutation in SCN4A gene.

PMID 22926674 2012 In 4 hyperKPP patients from 2 families, molecular analyses revealed Arg675Gly and Arg675Gln mutations of SCN4A, which were previously reported to cause normoKPP.

PMID 20298421 2010 EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.

PMID 18824591 2008 Gating pore currents in DIIS4 mutations of NaV1.4 associated with periodic paralysis: saturation of ion flux and implications for disease pathogenesis.

PMID 15482957 2004 Mutation screening in Korean hypokalemic periodic paralysis patients: a novel SCN4A Arg672Cys mutation.

PMID 15557532 2004 SCN4A-associated hypokalemic periodic paralysis merits a trial of acetazolamide.

PMID 11912116 2002 Enhanced inactivation and pH sensitivity of Na(+) channel mutations causing hypokalaemic periodic paralysis type II.

PMID 11558801 2001 Sodium channel inactivation defects are associated with acetazolamide-exacerbated hypokalemic periodic paralysis.

PMID 18162704 2007 The genotype and clinical phenotype of Korean patients with familial hypokalemic periodic paralysis.

PMID 26252573 2015 Mutation analysis of CACNA1S and SCN4A in patients with hypokalemic periodic paralysis.

PMID 15645704 2004 Thyrotoxic periodic paralysis associated with a mutation in the sodium channel gene SCN4A.

PMID 22253645 2011 Hypokalemic periodic paralysis; two different genes responsible for similar clinical manifestations.

PMID 19118277 2009 Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis.

PMID 23019082 2013 Gender differences in penetrance and phenotype in hypokalemic periodic paralysis.

PMID 11591859 2001 Sodium channel gene mutations in hypokalemic periodic paralysis: an uncommon cause in the UK.

PMID 10944223 2000 Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current.

PMID 11971097 2002 Impairment of slow inactivation as a common mechanism for periodic paralysis in DIIS4-S5.

rs80338785 in SCN4A;LOC105371858 gene and Hypokalemic Periodic Paralysis, Type 2 PMID 18162704 2007 The genotype and clinical phenotype of Korean patients with familial hypokalemic periodic paralysis.

PMID 10944223 2000 Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current.

PMID 11558801 2001 Sodium channel inactivation defects are associated with acetazolamide-exacerbated hypokalemic periodic paralysis.

PMID 16890191 2006 The unitary Na+ conductance remained normal in R1132Q and in R672S mutants, and cannot therefore account for the reduction of Na+ current presumed in hypoPP2.

PMID 11591859 2001 Sodium channel gene mutations in hypokalemic periodic paralysis: an uncommon cause in the UK.

PMID 20522878 2010 Both hypokalaemic and normokalaemic periodic paralysis in different members of a single family with novel R1129Q mutation in SCN4A gene.

PMID 10851391 2000 Temperature-sensitive sodium channelopathy with heat-induced myotonia and cold-induced paralysis.

PMID 10599760 1999 A novel sodium channel mutation in a family with hypokalemic periodic paralysis.

PMID 17898326 2008 Cold-induced defects of sodium channel gating in atypical periodic paralysis plus myotonia.

PMID 21043388 2010 Hypokalemic periodic paralysis due to the SCN4A R672H mutation in a Turkish family.

PMID 19118277 2009 Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis.

PMID 24549961 2014 NaV1.4 mutations cause hypokalaemic periodic paralysis by disrupting IIIS4 movement during recovery.

rs121908557 in SCN4A;LOC105371858 gene and Hypoplasia of mandibular condyle PMID 19065518 2008 [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].

PMID 15596759 2004 New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis.

rs121908557 in SCN4A;LOC105371858 gene and Increased variability in muscle fiber diameter PMID 15596759 2004 New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis.

PMID 19065518 2008 [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].

rs121908557 in SCN4A;LOC105371858 gene and Intrauterine retardation PMID 19065518 2008 [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].

PMID 15596759 2004 New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis.

rs121908557 in SCN4A;LOC105371858 gene and Low set ears PMID 15596759 2004 New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis.

PMID 19065518 2008 [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].

rs121908557 in SCN4A;LOC105371858 gene and Myopathy PMID 15596759 2004 New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis.

PMID 19065518 2008 [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].

rs121908557 in SCN4A;LOC105371858 gene and Neonatal Hypotonia PMID 19065518 2008 [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].

PMID 15596759 2004 New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis.

rs121908552 in SCN4A;LOC105371858 gene and Normokalemic Periodic Paralysis, Potassium-Sensitive PMID 10218481 1999 Functional consequences of a domain 1/S6 segment sodium channel mutation associated with painful congenital myotonia.

PMID 19840739 2009 Extraocular muscle hypertrophy in myotonia congenita: Mutation identified in the SCN4A gene (V445M).

PMID 17334961 2007 Warm-up phenomenon in myotonia associated with the V445M sodium channel mutation.

PMID 22653516 2012 Myotonia congenita with strabismus in a large family with a mutation in the SCN4A gene.

PMID 11744749 2001 Mexiletine block of disease-associated mutations in S6 segments of the human skeletal muscle Na(+) channel.

PMID 27199537 2015 Imaging alterations in skeletal muscle channelopathies: a study in 15 patients.

PMID 25839108 2015 Mutations of SCN4A gene cause different diseases: 2 case reports and literature review.

PMID 9392583 1997 A novel muscle sodium channel mutation causes painful congenital myotonia.

PMID 25724373 2015 Phenotypic variability in childhood of skeletal muscle sodium channelopathies.

PMID 19065518 2008 [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].

PMID 18046642 2008 Mutations of sodium channel alpha-subunit genes in Chinese patients with normokalemic periodic paralysis.

PMID 19052238 2008 Depolarization-activated gating pore current conducted by mutant sodium channels in potassium-sensitive normokalemic periodic paralysis.

PMID 24682880 2014 Enhanced slow inactivation of the human skeletal muscle sodium channel causing normokalemic periodic paralysis.

PMID 15596759 2004 New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis.

PMID 19225109 2009 K+-dependent paradoxical membrane depolarization and Na+ overload, major and reversible contributors to weakness by ion channel leaks.

PMID 22926674 2012 Normokalemic periodic paralysis is not a distinct disease.

PMID 18824591 2008 Gating pore currents in DIIS4 mutations of NaV1.4 associated with periodic paralysis: saturation of ion flux and implications for disease pathogenesis.

PMID 11912116 2002 Enhanced inactivation and pH sensitivity of Na(+) channel mutations causing hypokalaemic periodic paralysis type II.

PMID 15557532 2004 SCN4A-associated hypokalemic periodic paralysis merits a trial of acetazolamide.

PMID 15482957 2004 Mutation screening in Korean hypokalemic periodic paralysis patients: a novel SCN4A Arg672Cys mutation.

PMID 23019082 2013 Gender differences in penetrance and phenotype in hypokalemic periodic paralysis.

PMID 11558801 2001 Sodium channel inactivation defects are associated with acetazolamide-exacerbated hypokalemic periodic paralysis.

PMID 11591859 2001 Sodium channel gene mutations in hypokalemic periodic paralysis: an uncommon cause in the UK.

PMID 15645704 2004 Thyrotoxic periodic paralysis associated with a mutation in the sodium channel gene SCN4A.

PMID 19118277 2009 Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis.

PMID 22253645 2011 Hypokalemic periodic paralysis; two different genes responsible for similar clinical manifestations.

PMID 10944223 2000 Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current.

PMID 18162704 2007 The genotype and clinical phenotype of Korean patients with familial hypokalemic periodic paralysis.

PMID 26252573 2015 Mutation analysis of CACNA1S and SCN4A in patients with hypokalemic periodic paralysis.

PMID 11971097 2002 Impairment of slow inactivation as a common mechanism for periodic paralysis in DIIS4-S5.

rs121908552 in SCN4A;LOC105371858 gene and Potassium aggravated myotonia PMID 27653901 2016 A case of non-dystrophic myotonia with concomitant mutations in the SCN4A and CLCN1 genes.

PMID 19015483 2008 A novel dominant mutation of the Nav1.4 alpha-subunit domain I leading to sodium channel myotonia.

PMID 20076800 2009 Clinical Diversity of SCN4A-Mutation-Associated Skeletal Muscle Sodium Channelopathy.

PMID 18337100 2009 Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians.

PMID 17212350 2007 A large German kindred with cold-aggravated myotonia and a heterozygous A1481D mutation in the SCN4A gene.

PMID 20298421 2010 EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.

PMID 8058156 1994 Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis.

PMID 19347921 2009 New mutation of the Na channel in the severe form of potassium-aggravated myotonia.

PMID 17998485 2007 A novel founder SCN4A mutation causes painful cold-induced myotonia in French-Canadians.

PMID 9392583 1997 A novel muscle sodium channel mutation causes painful congenital myotonia.

PMID 16832098 2006 Autosomal dominant monosymptomatic myotonia permanens.

PMID 18203179 2008 Severe neonatal non-dystrophic myotonia secondary to a novel mutation of the voltage-gated sodium channel (SCN4A) gene.

PMID 10218481 1999 Functional consequences of a domain 1/S6 segment sodium channel mutation associated with painful congenital myotonia.

PMID 16786525 2006 Cold extends electromyography distinction between ion channel mutations causing myotonia.

rs121908557 in SCN4A;LOC105371858 gene and Primary Caesarian section PMID 15596759 2004 New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis.

PMID 19065518 2008 [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].

rs4968678 in SCN4A;LOC105371858 gene and Schizophrenia PMID 22440650 2012 Multifaceted genomic risk for brain function in schizophrenia.

rs121908557 in SCN4A;LOC105371858 gene and Small for gestational age (disorder) PMID 15596759 2004 New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis.

PMID 19065518 2008 [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].

rs121908557 in SCN4A;LOC105371858 gene and Ventricular Septal Defects PMID 19065518 2008 [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].

PMID 15596759 2004 New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis.