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

rs112489358 in SCN4A gene and Body Height PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 28552196 2017 Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.

rs121908544 in SCN4A gene and Hyperkalemic periodic paralysis PMID 8110459 1994 Sodium channel mutations in paramyotonia congenita uncouple inactivation from activation.

PMID 7809121 1994 Sodium channel mutations in paramyotonia congenita exhibit similar biophysical phenotypes in vitro.

PMID 8005599 1994 Molecular and genetic characterisation of German families with paramyotonia congenita and demonstration of founder effect in the Ravensberg families.

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

PMID 21490317 2011 Leaky sodium channels from voltage sensor mutations in periodic paralysis, but not paramyotonia.

PMID 10381583 1999 Characterization of a new sodium channel mutation at arginine 1448 associated with moderate Paramyotonia congenita in humans.

PMID 16801039 2006 Paralysis periodica paramyotonica caused by SCN4A Arg1448Cys mutation.

PMID 20038812 2010 Human voltage-gated sodium channel mutations that cause inherited neuronal and muscle channelopathies increase resurgent sodium currents.

PMID 18337730 2008 In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia.

PMID 27415035 2017 Sequence CLCN1 and SCN4A in patients with Nondystrophic myotonias in Chinese populations: Genetic and pedigree analysis of 10 families and review of the literature.

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

PMID 7676326 1995 In vivo sodium channel structure/function studies: consecutive Arg1448 changes to Cys, His, and Pro at the extracellular surface of IVS4.

PMID 8619545 1996 Paramyotonia congenita: the R1448P Na+ channel mutation in adult human skeletal muscle.

PMID 12562902 2003 Mechanisms of cold sensitivity of paramyotonia congenita mutation R1448H and overlap syndrome mutation M1360V.

PMID 23810313 2013 Muscle MRI reveals distinct abnormalities in genetically proven non-dystrophic myotonias.

PMID 14518676 2003 Thr1313Met mutation in skeletal muscle sodium channels in a Japanese family with paramyotonia congenita.

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

PMID 23771340 2013 Non-dystrophic myotonia: prospective study of objective and patient reported outcomes.

PMID 21220685 2011 Stridor as a neonatal presentation of skeletal muscle sodium channelopathy.

PMID 8044656 1994 Mutations in the muscle sodium channel gene (SCN4A) in 13 French families with hyperkalemic periodic paralysis and paramyotonia congenita: phenotype to genotype correlations and demonstration of the predominance of two mutations.

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

PMID 20445432 2010 A case of paramyotonia congenita without periodic paralysis: electrophysiological and molecular genetic studies.

PMID 19770477 2009 A patient with episodic ataxia and paramyotonia congenita due to mutations in KCNA1 and SCN4A.

PMID 8910215 1996 Two human paramyotonia congenita mutations have opposite effects on lidocaine block of Na+ channels expressed in a mammalian cell line.

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

PMID 26834636 2015 Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 Comparison.

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

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

PMID 25755818 2015 Phenotypic variation of Val1589Met mutation in a four-generation Chinese pedigree with mild paramyotonia congenitia: case report.

PMID 9771789 1998 Familial cramp due to potassium-aggravated myotonia.

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

PMID 1659948 1991 Identification of a mutation in the gene causing hyperkalemic periodic paralysis.

PMID 1659668 1991 A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis.

PMID 9660885 1998 Human sodium channel gating defects caused by missense mutations in S6 segments associated with myotonia: S804F and V1293I.

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

PMID 24939454 2014 Focal and abnormally persistent paralysis associated with congenital paramyotonia.

PMID 27486940 2016 A Large Dominant Myotonia Congenita Family with a V1293I Mutation in SCN4A.

PMID 29111379 2017 A SCN4A mutation causing paramyotonia congenita.

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

PMID 29419865 2018 [Screening of genetic mutations in a Chinese pedigree affected with hypokalemic periodic paralysis].

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

PMID 21189962 2010 An atypical phenotype of hypokalemic periodic paralysis caused by a mutation in the sodium channel gene SCN4A.

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

PMID 23516313 2013 Prevalence study of genetically defined skeletal muscle channelopathies in England.

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

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

PMID 19882638 2010 Homozygosity for dominant mutations increases severity of muscle channelopathies.

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

PMID 17823953 2008 Reduced muscle-fiber conduction but normal slowing after cold exposure in paramyotonia congenita.

PMID 7473241 1995 Different effects on gating of three myotonia-causing mutations in the inactivation gate of the human muscle sodium channel.

PMID 26944947 2016 Flecainide-Responsive Myotonia Permanens With SNEL Onset: A New Case and Literature Review.

PMID 26080010 2015 Painful cramps and giant myotonic discharges in a family with the Nav1.4-G1306A mutation.

PMID 26885337 2015 Mutation analysis in exons 22 and 24 of SCN4A gene in Iranian patients with non-dystrophic myotonia.

PMID 22094069 2012 Screening for mutations in Spanish families with myotonia. Functional analysis of novel mutations in CLCN1 gene.

PMID 16832098 2006 Autosomal dominant monosymptomatic myotonia permanens.

PMID 7980103 1994 Myotonia fluctuans. A third type of muscle sodium channel disease.

PMID 25088311 2014 Heterozygous CLCN1 mutations can modulate phenotype in sodium channel myotonia.

PMID 16392038 2005 K-aggravated myotonia mutations at residue G1306 differentially alter deactivation gating of human skeletal muscle sodium channels.

PMID 20713951 2010 Severe neonatal episodic laryngospasm due to de novo SCN4A mutations: a new treatable disorder.

PMID 25311598 2014 Mutations in SCN4A: a rare but treatable cause of recurrent life-threatening laryngospasm.

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

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

PMID 17395131 2007 Genotype-phenotype correlation and therapeutic rationale in hyperkalemic periodic paralysis.

PMID 10366610 1999 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.

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

PMID 15642860 2005 Familial periodic paralysis and Charcot-Marie-Tooth disease in a 7-generation family.

PMID 26256659 2015 We performed whole-body muscle MRI in seven hyperKPP patients carrying the T704M mutation in the SCN4A skeletal sodium-channel gene.

PMID 22253644 2011 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.

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

PMID 9339683 1997 A novel sodium channel mutation causing a hyperkalemic paralytic and paramyotonic syndrome with variable clinical expressivity.

PMID 11757950 2001 Hyperkalemic periodic paralysis and paramyotonia congenita--a novel sodium channel mutation.

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

PMID 21665479 2011 Severe phenotypes of paralysis periodica paramyotonia are associated with the Met1592Val mutation in the voltage-gated sodium channel gene (SCN4A) in a Chinese family.

PMID 24714718 2014 Contractile abnormalities of mouse muscles expressing hyperkalemic periodic paralysis mutant NaV1.4 channels do not correlate with Na+ influx or channel content.

PMID 8242056 1993 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.

PMID 9131651 1997 One such substitution, methionine for valine at position 1592, has been associated with HyperPP with myotonia and cold sensitivity.

PMID 23801527 2013 A patient with mutation in the SCN4A p.M1592v presenting with fixed weakness, rhabdomyolysis, and episodic worsening of weakness.

PMID 24943082 2014 [Normokalemic periodic paralysis lasting for two weeks: a severe form of sodium channelopathy with M1592V mutation].

rs121908555 in SCN4A gene and Hypokalemic Periodic Paralysis, Type 2 PMID 21043388 2010 Hypokalemic periodic paralysis due to the SCN4A R672H mutation in a Turkish family.

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

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

PMID 19118277 2009 Voltage sensor charge loss accounts for most cases of hypokalemic 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 24549961 2014 NaV1.4 mutations cause hypokalaemic periodic paralysis by disrupting IIIS4 movement during recovery.

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

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

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

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

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.

rs121908553 in SCN4A gene and MYASTHENIC SYNDROME, CONGENITAL, 16 PMID 26659129 2016 A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis.

PMID 12766226 2003 Myasthenic syndrome caused by mutation of the SCN4A sodium channel.

PMID 25707578 2015 Defective fast inactivation recovery of Nav 1.4 in congenital myasthenic syndrome.

rs867587467 in SCN4A gene and Muscle hypotonia PMID 15482957 2004 Mutation screening in Korean hypokalemic periodic paralysis patients: a novel SCN4A Arg672Cys mutation.

PMID 26700687 2016 Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.

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

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

PMID 26427606 2015 SCN4A pore mutation pathogenetically contributes to autosomal dominant essential tremor and may increase susceptibility to epilepsy.

PMID 26484179 2015 Identification of genetic variations of a Chinese family with paramyotonia congenita via whole exome sequencing.

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

rs121908553 in SCN4A gene and Myasthenic Syndromes, Congenital PMID 12766226 2003 Myasthenic syndrome caused by mutation of the SCN4A sodium channel.

PMID 26659129 2016 A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis.

rs121908544 in SCN4A gene and Normokalemic Periodic Paralysis, Potassium-Sensitive PMID 8005599 1994 Molecular and genetic characterisation of German families with paramyotonia congenita and demonstration of founder effect in the Ravensberg families.

PMID 10381583 1999 Characterization of a new sodium channel mutation at arginine 1448 associated with moderate Paramyotonia congenita in humans.

PMID 21490317 2011 Leaky sodium channels from voltage sensor mutations in periodic paralysis, but not paramyotonia.

PMID 8110459 1994 Sodium channel mutations in paramyotonia congenita uncouple inactivation from activation.

PMID 7809121 1994 Sodium channel mutations in paramyotonia congenita exhibit similar biophysical phenotypes in vitro.

PMID 16801039 2006 Paralysis periodica paramyotonica caused by SCN4A Arg1448Cys mutation.

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

PMID 18337730 2008 In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia.

PMID 8619545 1996 Paramyotonia congenita: the R1448P Na+ channel mutation in adult human skeletal muscle.

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

PMID 7676326 1995 In vivo sodium channel structure/function studies: consecutive Arg1448 changes to Cys, His, and Pro at the extracellular surface of IVS4.

PMID 12562902 2003 Mechanisms of cold sensitivity of paramyotonia congenita mutation R1448H and overlap syndrome mutation M1360V.

PMID 27415035 2017 Sequence CLCN1 and SCN4A in patients with Nondystrophic myotonias in Chinese populations: Genetic and pedigree analysis of 10 families and review of the literature.

PMID 20038812 2010 Human voltage-gated sodium channel mutations that cause inherited neuronal and muscle channelopathies increase resurgent sodium currents.

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

PMID 21220685 2011 Stridor as a neonatal presentation of skeletal muscle sodium channelopathy.

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

PMID 8910215 1996 Two human paramyotonia congenita mutations have opposite effects on lidocaine block of Na+ channels expressed in a mammalian cell line.

PMID 8044656 1994 Mutations in the muscle sodium channel gene (SCN4A) in 13 French families with hyperkalemic periodic paralysis and paramyotonia congenita: phenotype to genotype correlations and demonstration of the predominance of two mutations.

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

PMID 26834636 2015 Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 Comparison.

PMID 14518676 2003 Thr1313Met mutation in skeletal muscle sodium channels in a Japanese family with paramyotonia congenita.

PMID 23810313 2013 Muscle MRI reveals distinct abnormalities in genetically proven non-dystrophic myotonias.

PMID 19770477 2009 A patient with episodic ataxia and paramyotonia congenita due to mutations in KCNA1 and SCN4A.

PMID 20445432 2010 A case of paramyotonia congenita without periodic paralysis: electrophysiological and molecular genetic studies.

PMID 23771340 2013 Non-dystrophic myotonia: prospective study of objective and patient reported outcomes.

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

PMID 25755818 2015 Phenotypic variation of Val1589Met mutation in a four-generation Chinese pedigree with mild paramyotonia congenitia: case report.

PMID 9771789 1998 Familial cramp due to potassium-aggravated myotonia.

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

PMID 9660885 1998 Human sodium channel gating defects caused by missense mutations in S6 segments associated with myotonia: S804F and V1293I.

PMID 24939454 2014 Focal and abnormally persistent paralysis associated with congenital paramyotonia.

PMID 27486940 2016 A Large Dominant Myotonia Congenita Family with a V1293I Mutation in SCN4A.

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

PMID 29111379 2017 A SCN4A mutation causing paramyotonia congenita.

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

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

PMID 21189962 2010 An atypical phenotype of hypokalemic periodic paralysis caused by a mutation in the sodium channel gene SCN4A.

PMID 29419865 2018 [Screening of genetic mutations in a Chinese pedigree affected with hypokalemic periodic paralysis].

PMID 23516313 2013 Prevalence study of genetically defined skeletal muscle channelopathies in England.

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

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

PMID 19882638 2010 Homozygosity for dominant mutations increases severity of muscle channelopathies.

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

PMID 7473241 1995 Different effects on gating of three myotonia-causing mutations in the inactivation gate of the human muscle sodium channel.

PMID 26944947 2016 Flecainide-Responsive Myotonia Permanens With SNEL Onset: A New Case and Literature Review.

PMID 7980103 1994 Myotonia fluctuans. A third type of muscle sodium channel disease.

PMID 20713951 2010 Severe neonatal episodic laryngospasm due to de novo SCN4A mutations: a new treatable disorder.

PMID 26885337 2015 Mutation analysis in exons 22 and 24 of SCN4A gene in Iranian patients with non-dystrophic myotonia.

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

PMID 26080010 2015 Painful cramps and giant myotonic discharges in a family with the Nav1.4-G1306A mutation.

PMID 16392038 2005 K-aggravated myotonia mutations at residue G1306 differentially alter deactivation gating of human skeletal muscle sodium channels.

PMID 17823953 2008 Reduced muscle-fiber conduction but normal slowing after cold exposure in paramyotonia congenita.

PMID 22094069 2012 Screening for mutations in Spanish families with myotonia. Functional analysis of novel mutations in CLCN1 gene.

PMID 25311598 2014 Mutations in SCN4A: a rare but treatable cause of recurrent life-threatening laryngospasm.

PMID 25088311 2014 Heterozygous CLCN1 mutations can modulate phenotype in sodium channel myotonia.

PMID 16832098 2006 Autosomal dominant monosymptomatic myotonia permanens.

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

PMID 22253644 2011 Familial hyperkalemic periodic paralysis caused by a de novo mutation in the sodium channel gene SCN4A.

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

PMID 1659948 1991 Identification of a mutation in the gene causing hyperkalemic periodic paralysis.

PMID 10366610 1999 Activation and inactivation of the voltage-gated sodium channel: role of segment S5 revealed by a novel hyperkalaemic periodic paralysis mutation.

PMID 26256659 2015 Whole-Body Muscle MRI in Patients with Hyperkalemic Periodic Paralysis Carrying the SCN4A Mutation T704M: Evidence for Chronic Progressive Myopathy with Selective Muscle Involvement.

PMID 15642860 2005 Familial periodic paralysis and Charcot-Marie-Tooth disease in a 7-generation family.

PMID 17395131 2007 Genotype-phenotype correlation and therapeutic rationale in hyperkalemic periodic paralysis.

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

PMID 9339683 1997 A novel sodium channel mutation causing a hyperkalemic paralytic and paramyotonic syndrome with variable clinical expressivity.

PMID 11757950 2001 Hyperkalemic periodic paralysis and paramyotonia congenita--a novel sodium channel mutation.

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

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

PMID 1659668 1991 A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis.

PMID 24714718 2014 Contractile abnormalities of mouse muscles expressing hyperkalemic periodic paralysis mutant NaV1.4 channels do not correlate with Na+ influx or channel content.

PMID 9131651 1997 Paramyotonia congenita and hyperkalemic periodic paralysis associated with a Met 1592 Val substitution in the skeletal muscle sodium channel alpha subunit--a large kindred with a novel phenotype.

PMID 23801527 2013 A patient with mutation in the SCN4A p.M1592v presenting with fixed weakness, rhabdomyolysis, and episodic worsening of weakness.

PMID 21665479 2011 Severe phenotypes of paralysis periodica paramyotonia are associated with the Met1592Val mutation in the voltage-gated sodium channel gene (SCN4A) in a Chinese family.

PMID 24943082 2014 [Normokalemic periodic paralysis lasting for two weeks: a severe form of sodium channelopathy with M1592V mutation].

rs121908544 in SCN4A gene and Paramyotonia Congenita (disorder) 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 8308722 1993 Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III-IV linker.

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

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

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

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

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

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

PMID 10727489 2000 Clinical, electrophysiological, and molecular genetic studies in a new family with paramyotonia congenita.

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

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

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

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

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

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

PMID 8580427 1995 In this study we present three German families with PC without cold paralysis, provide evidence that the disorder is linked to the SCN4A gene and report a novel SCN4A mutation (Val1293Ile) segregating in these families.

PMID 10369308 1999 In addition to the G1456E identified in this study, 4 mutations that cause a decrease in positive charge in the S4/D4 are associated with the phenotype of PMC of von Eulenburg.

PMID 19077043 2009 These observations confirmed that TAs were associated with T704M mutations of SCN4A in paralysis periodica paramyotonica.Some proteins can mislocate in the TAs.

rs121908549 in SCN4A gene and Potassium aggravated myotonia PMID 18203179 2008 Severe neonatal non-dystrophic myotonia secondary to a novel mutation of the voltage-gated sodium channel (SCN4A) gene.

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

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

PMID 16832098 2006 Autosomal dominant monosymptomatic myotonia permanens.

PMID 27653901 2016 A case of non-dystrophic myotonia with concomitant mutations in the SCN4A and CLCN1 genes.

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

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

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

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

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

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

PMID 17998485 2007 In the other 11 families comprising 66% of cases (44/66), a new dominant SCN4A mutation in exon 24 (M1476I) was uncovered and segregated with a variable SCM phenotype.

PMID 16832098 2006 Myotonia permanens is associated with a G1306E mutation in the SCN4A gene.

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

rs121908545 in SCN4A gene and Rhabdomyolysis PMID 28779239 2017 Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases.

rs2532111 in SCN4A gene and Waist-Hip Ratio PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.