Variant: rs121908552 

    present in Gene: SCN4A;LOC105371858
    present in Chromosome: 17
    Position on Chromosome: 63964587
    Alleles of this Variant: C/A;G;T

rs121908552 in SCN4A;LOC105371858 gene and Hyperkalemic periodic paralysis PMID 9392583 1997 A novel muscle sodium channel mutation causes painful congenital myotonia.

PMID 27199537 2015 Imaging alterations in skeletal muscle channelopathies: a study in 15 patients.

PMID 17334961 2007 Warm-up phenomenon in myotonia associated with the V445M sodium channel mutation.

PMID 22653516 2012 Myotonia congenita with strabismus in a large family with a mutation in the SCN4A gene.

PMID 25839108 2015 Mutations of SCN4A gene cause different diseases: 2 case reports and literature review.

PMID 25724373 2015 Phenotypic variability in childhood of skeletal muscle sodium channelopathies.

PMID 11744749 2001 Mexiletine block of disease-associated mutations in S6 segments of the human skeletal muscle Na(+) channel.

PMID 19840739 2009 Extraocular muscle hypertrophy in myotonia congenita: Mutation identified in the SCN4A gene (V445M).

PMID 10218481 1999 Functional consequences of a domain 1/S6 segment sodium channel mutation associated with painful congenital myotonia.

rs121908552 in SCN4A;LOC105371858 gene and Normokalemic Periodic Paralysis, Potassium-Sensitive PMID 10218481 1999 Functional consequences of a domain 1/S6 segment sodium channel mutation associated with painful congenital myotonia.

PMID 19840739 2009 Extraocular muscle hypertrophy in myotonia congenita: Mutation identified in the SCN4A gene (V445M).

PMID 17334961 2007 Warm-up phenomenon in myotonia associated with the V445M sodium channel mutation.

PMID 22653516 2012 Myotonia congenita with strabismus in a large family with a mutation in the SCN4A gene.

PMID 11744749 2001 Mexiletine block of disease-associated mutations in S6 segments of the human skeletal muscle Na(+) channel.

PMID 27199537 2015 Imaging alterations in skeletal muscle channelopathies: a study in 15 patients.

PMID 25839108 2015 Mutations of SCN4A gene cause different diseases: 2 case reports and literature review.

PMID 9392583 1997 A novel muscle sodium channel mutation causes painful congenital myotonia.

PMID 25724373 2015 Phenotypic variability in childhood of skeletal muscle sodium channelopathies.

rs121908552 in SCN4A;LOC105371858 gene and Potassium aggravated myotonia PMID 27653901 2016 A case of non-dystrophic myotonia with concomitant mutations in the SCN4A and CLCN1 genes.

PMID 19015483 2008 A novel dominant mutation of the Nav1.4 alpha-subunit domain I leading to sodium channel myotonia.

PMID 20076800 2009 Clinical Diversity of SCN4A-Mutation-Associated Skeletal Muscle Sodium Channelopathy.

PMID 18337100 2009 Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians.

PMID 17212350 2007 A large German kindred with cold-aggravated myotonia and a heterozygous A1481D mutation in the SCN4A gene.

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

PMID 8058156 1994 Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis.

PMID 19347921 2009 New mutation of the Na channel in the severe form of potassium-aggravated myotonia.

PMID 17998485 2007 A novel founder SCN4A mutation causes painful cold-induced myotonia in French-Canadians.

PMID 9392583 1997 A novel muscle sodium channel mutation causes painful congenital myotonia.

PMID 16832098 2006 Autosomal dominant monosymptomatic myotonia permanens.

PMID 18203179 2008 Severe neonatal non-dystrophic myotonia secondary to a novel mutation of the voltage-gated sodium channel (SCN4A) gene.

PMID 10218481 1999 Functional consequences of a domain 1/S6 segment sodium channel mutation associated with painful congenital myotonia.

PMID 16786525 2006 Cold extends electromyography distinction between ion channel mutations causing myotonia.