Variant: rs121908556 

    present in Gene: LOC105371858;SCN4A
    present in Chromosome: 17
    Position on Chromosome: 63957515
    Alleles of this Variant: G/A;C

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.

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.