Variant: rs28930068 

    present in Gene: CACNA1S
    present in Chromosome: 1
    Position on Chromosome: 201053538
    Alleles of this Variant: C/T

rs28930068 in CACNA1S gene and Hypokalemic periodic paralysis type 1 PMID 19225109 2009 K+-dependent paradoxical membrane depolarization and Na+ overload, major and reversible contributors to weakness by ion channel leaks.

PMID 25213595 2015 Muscle edema of the lower limb determined by MRI in Asian hypokalaemic periodic paralysis patients.

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

PMID 28857175 2017 Elevated resting H+ current in the R1239H type 1 hypokalaemic periodic paralysis mutated Ca2+ channel.

PMID 8004673 1994 Dihydropyridine receptor mutations cause hypokalemic periodic paralysis.

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

PMID 29572832 2018 When muscle Ca2+ channels carry monovalent cations through gating pores: insights into the pathophysiology of type 1 hypokalaemic periodic paralysis.

PMID 7987325 1994 A calcium channel mutation causing hypokalemic periodic paralysis.

PMID 7847370 1995 Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNL1A3): genotype/phenotype correlations for two predominant mutations and evidence for the absence of a founder effect in 16 caucasian families.

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

PMID 11555352 2001 Muscle weakness in a Japanese family of Arg1239His mutation hypokalemic periodic paralysis.

PMID 17418573 2007 Hypokalaemic periodic paralysis due to the CACNA1S R1239H mutation in a large African family.

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

PMID 10639629 2000 Muscle fiber conduction velocity in arg1239his mutation in hypokalemic periodic paralysis.

rs28930068 in CACNA1S gene and MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5 PMID 19225109 2009 K+-dependent paradoxical membrane depolarization and Na+ overload, major and reversible contributors to weakness by ion channel leaks.

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

PMID 25213595 2015 Muscle edema of the lower limb determined by MRI in Asian hypokalaemic periodic paralysis patients.

PMID 10639629 2000 Muscle fiber conduction velocity in arg1239his mutation in hypokalemic periodic paralysis.

PMID 7847370 1995 Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNL1A3): genotype/phenotype correlations for two predominant mutations and evidence for the absence of a founder effect in 16 caucasian families.

PMID 17418573 2007 Hypokalaemic periodic paralysis due to the CACNA1S R1239H mutation in a large African family.

PMID 11555352 2001 Muscle weakness in a Japanese family of Arg1239His mutation hypokalemic periodic paralysis.