Variant: rs80338784 

    present in Gene: LOC105371858;SCN4A
    present in Chromosome: 17
    Position on Chromosome: 63959278
    Alleles of this Variant: C/T

rs80338784 in LOC105371858;SCN4A gene and Hyperkalemic 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.

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.

rs80338784 in LOC105371858;SCN4A gene and Normokalemic Periodic Paralysis, Potassium-Sensitive 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.