Gene: LOC105371858

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

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

rs121908556 in LOC105371858;SCN4A gene and Hyperkalemic periodic paralysis PMID 18046642 2008 Mutations of sodium channel alpha-subunit genes in Chinese patients with normokalemic periodic paralysis.

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

PMID 15596759 2004 New mutations of SCN4A cause a potassium-sensitive 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 19052238 2008 Depolarization-activated gating pore current conducted by mutant sodium channels in potassium-sensitive normokalemic periodic paralysis.

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

PMID 11102465 2000 The human skeletal muscle Na channel mutation R669H associated with hypokalemic periodic paralysis enhances slow inactivation.

PMID 21881211 2011 A sodium channel knockin mutant (NaV1.4-R669H) mouse model of hypokalemic periodic paralysis.

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

PMID 25024265 2014 Disrupted coupling of gating charge displacement to Na+ current activation for DIIS4 mutations in hypokalemic periodic paralysis.

PMID 21841462 2012 Genotype and phenotype analysis of patients with sporadic periodic paralysis.

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

PMID 25213595 2015 Muscle edema of the lower limb determined by MRI in Asian hypokalaemic periodic paralysis patients.

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

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

PMID 20660662 2010 Ion permeation and block of the gating pore in the voltage sensor of NaV1.4 channels with hypokalemic periodic paralysis mutations.

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

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

PMID 17330043 2007 Gating pore current in an inherited ion channelopathy.

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

PMID 14504341 2003 Lack of association of the potassium channel-associated peptide MiRP2-R83H variant with periodic paralysis.

PMID 2649440 1989 Detection of high-risk groups and individuals for periodontal diseases.

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

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

PMID 8902732 1996 Paramyotonia congenita: genotype to phenotype correlations in two families and report of a new mutation in the sodium channel gene.

PMID 9508833 1998 Functional expression of the Ile693Thr Na+ channel mutation associated with paramyotonia congenita in a human cell line.

PMID 19015492 2008 Neonatal hypotonia can be a sodium channelopathy: recognition of a new phenotype.

PMID 22106717 2011 A novel N440K sodium channel mutation causes myotonia with exercise-induced weakness--exclusion of CLCN1 exon deletion/duplication by MLPA.

PMID 22914841 2012 Altered fast and slow inactivation of the N440K Nav1.4 mutant in a periodic paralysis syndrome.

rs80338784 in LOC105371858;SCN4A gene and Hypokalemic Periodic Paralysis, Type 2 PMID 11558801 2001 Sodium channel inactivation defects are associated with acetazolamide-exacerbated hypokalemic periodic paralysis.

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

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

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

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

PMID 16890191 2006 Gating defects of a novel Na+ channel mutant causing hypokalemic periodic paralysis.

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

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

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

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

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

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

rs121908556 in LOC105371858;SCN4A gene and Normokalemic Periodic Paralysis, Potassium-Sensitive PMID 22926674 2012 Normokalemic periodic paralysis is not a distinct disease.

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

PMID 11102465 2000 The human skeletal muscle Na channel mutation R669H associated with hypokalemic periodic paralysis enhances slow inactivation.

PMID 25024265 2014 Disrupted coupling of gating charge displacement to Na+ current activation for DIIS4 mutations in hypokalemic periodic paralysis.

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

PMID 21881211 2011 A sodium channel knockin mutant (NaV1.4-R669H) mouse model of hypokalemic periodic paralysis.

PMID 21841462 2012 Genotype and phenotype analysis of patients with sporadic periodic paralysis.

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

PMID 17330043 2007 Gating pore current in an inherited ion channelopathy.

PMID 25213595 2015 Muscle edema of the lower limb determined by MRI in Asian hypokalaemic periodic paralysis patients.

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

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

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

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

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

PMID 14504341 2003 Lack of association of the potassium channel-associated peptide MiRP2-R83H variant with periodic paralysis.

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

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 20660662 2010 Ion permeation and block of the gating pore in the voltage sensor of NaV1.4 channels with hypokalemic periodic paralysis mutations.

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

PMID 2649440 1989 Detection of high-risk groups and individuals for periodontal diseases.

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

PMID 19015492 2008 Neonatal hypotonia can be a sodium channelopathy: recognition of a new phenotype.

PMID 8902732 1996 Paramyotonia congenita: genotype to phenotype correlations in two families and report of a new mutation in the sodium channel gene.

PMID 9508833 1998 Functional expression of the Ile693Thr Na+ channel mutation associated with paramyotonia congenita in a human cell line.

PMID 22914841 2012 Altered fast and slow inactivation of the N440K Nav1.4 mutant in a periodic paralysis syndrome.

PMID 22106717 2011 A novel N440K sodium channel mutation causes myotonia with exercise-induced weakness--exclusion of CLCN1 exon deletion/duplication by MLPA.

rs80338956 in LOC105371858;SCN4A gene and Paramyotonia Congenita (disorder) PMID 10727489 2000 Clinical, electrophysiological, and molecular genetic studies in a new family with paramyotonia congenita.

PMID 1338909 1992 Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel.

PMID 1310898 1992 Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita.

PMID 1316765 1992 Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita.

PMID 10369308 1999 A novel mutation in the gene for the adult skeletal muscle sodium channel alpha-subunit (SCN4A) that causes paramyotonia congenita of von Eulenburg.

PMID 15318338 2004 Temperature-sensitive defects in paramyotonia congenita mutants R1448C and T1313M.

PMID 18690054 2008 Differential effects of paramyotonia congenita mutations F1473S and F1705I on sodium channel gating.

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

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

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

PMID 8242056 1993 A novel SCN4A mutation causing myotonia aggravated by cold and potassium.

PMID 8308722 1993 Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III-IV linker.

PMID 8388676 1993 Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis.

PMID 8580427 1995 Paramyotonia congenita without paralysis on exposure to cold: a novel mutation in the SCN4A gene (Val1293Ile).

PMID 18166706 2008 What causes paramyotonia in the United Kingdom? Common and new SCN4A mutations revealed.

PMID 19077043 2009 Tubular aggregates in paralysis periodica paramyotonica with T704M mutation of SCN4A.

PMID 15790667 2005 A1152D mutation of the Na+ channel causes paramyotonia congenita and emphasizes the role of DIII/S4-S5 linker in fast inactivation.