Variant: rs80338785 

    present in Gene: SCN4A;LOC105371858
    present in Chromosome: 17
    Position on Chromosome: 63959270
    Alleles of this Variant: G/A;C;T

rs80338785 in SCN4A;LOC105371858 gene and Hyperkalemic periodic paralysis 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 27199537 2015 Imaging alterations in skeletal muscle channelopathies: a study in 15 patients.

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

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.

rs80338785 in SCN4A;LOC105371858 gene and Normokalemic Periodic Paralysis, Potassium-Sensitive 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 27199537 2015 Imaging alterations in skeletal muscle channelopathies: a study in 15 patients.