Variant: rs121908555 

    present in Gene: SCN4A
    present in Chromosome: 17
    Position on Chromosome: 63945608
    Alleles of this Variant: G/A

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.