Variant: rs121908545 

    present in Gene: SCN4A
    present in Chromosome: 17
    Position on Chromosome: 63941939
    Alleles of this Variant: C/A;G;T

rs121908545 in SCN4A gene and Hyperkalemic periodic paralysis PMID 16801039 2006 Paralysis periodica paramyotonica caused by SCN4A Arg1448Cys mutation.

PMID 8110459 1994 Sodium channel mutations in paramyotonia congenita uncouple inactivation from activation.

PMID 1316765 1992 Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita.

PMID 20038812 2010 Human voltage-gated sodium channel mutations that cause inherited neuronal and muscle channelopathies increase resurgent sodium currents.

PMID 18337730 2008 In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia.

PMID 7809121 1994 Sodium channel mutations in paramyotonia congenita exhibit similar biophysical phenotypes in vitro.

PMID 8005599 1994 Molecular and genetic characterisation of German families with paramyotonia congenita and demonstration of founder effect in the Ravensberg families.

PMID 27415035 2017 Sequence CLCN1 and SCN4A in patients with Nondystrophic myotonias in Chinese populations: Genetic and pedigree analysis of 10 families and review of the literature.

PMID 18166706 2008 What causes paramyotonia in the United Kingdom? Common and new SCN4A mutations revealed.

PMID 7676326 1995 In vivo sodium channel structure/function studies: consecutive Arg1448 changes to Cys, His, and Pro at the extracellular surface of IVS4.

PMID 8619545 1996 Paramyotonia congenita: the R1448P Na+ channel mutation in adult human skeletal muscle.

PMID 12562902 2003 Mechanisms of cold sensitivity of paramyotonia congenita mutation R1448H and overlap syndrome mutation M1360V.

rs121908545 in SCN4A gene and Normokalemic Periodic Paralysis, Potassium-Sensitive PMID 18337730 2008 In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia.

PMID 8110459 1994 Sodium channel mutations in paramyotonia congenita uncouple inactivation from activation.

PMID 1316765 1992 Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita.

PMID 8619545 1996 Paramyotonia congenita: the R1448P Na+ channel mutation in adult human skeletal muscle.

PMID 8005599 1994 Molecular and genetic characterisation of German families with paramyotonia congenita and demonstration of founder effect in the Ravensberg families.

PMID 18166706 2008 What causes paramyotonia in the United Kingdom? Common and new SCN4A mutations revealed.

PMID 7676326 1995 In vivo sodium channel structure/function studies: consecutive Arg1448 changes to Cys, His, and Pro at the extracellular surface of IVS4.

PMID 16801039 2006 Paralysis periodica paramyotonica caused by SCN4A Arg1448Cys mutation.

PMID 12562902 2003 Mechanisms of cold sensitivity of paramyotonia congenita mutation R1448H and overlap syndrome mutation M1360V.

PMID 27415035 2017 Sequence CLCN1 and SCN4A in patients with Nondystrophic myotonias in Chinese populations: Genetic and pedigree analysis of 10 families and review of the literature.

PMID 7809121 1994 Sodium channel mutations in paramyotonia congenita exhibit similar biophysical phenotypes in vitro.

PMID 20038812 2010 Human voltage-gated sodium channel mutations that cause inherited neuronal and muscle channelopathies increase resurgent sodium currents.

rs121908545 in SCN4A gene and Paramyotonia Congenita (disorder) PMID 8580427 1995 Paramyotonia congenita without paralysis on exposure to cold: a novel mutation in the SCN4A gene (Val1293Ile).

PMID 8242056 1993 A novel SCN4A mutation causing myotonia aggravated by cold and potassium.

PMID 1310898 1992 Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita.

PMID 15318338 2004 Temperature-sensitive defects in paramyotonia congenita mutants R1448C and T1313M.

PMID 19077043 2009 Tubular aggregates in paralysis periodica paramyotonica with T704M mutation of SCN4A.

PMID 10727489 2000 Clinical, electrophysiological, and molecular genetic studies in a new family with paramyotonia congenita.

PMID 18166706 2008 What causes paramyotonia in the United Kingdom? Common and new SCN4A mutations revealed.

PMID 8388676 1993 Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis.

PMID 8308722 1993 Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III-IV linker.

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

PMID 18690054 2008 Differential effects of paramyotonia congenita mutations F1473S and F1705I on sodium channel gating.

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

PMID 10369308 1999 A novel mutation in the gene for the adult skeletal muscle sodium channel alpha-subunit (SCN4A) that causes paramyotonia congenita of von Eulenburg.

PMID 15790667 2005 A1152D mutation of the Na+ channel causes paramyotonia congenita and emphasizes the role of DIII/S4-S5 linker in fast inactivation.

PMID 1316765 1992 Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita.

PMID 1338909 1992 Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel.

rs121908545 in SCN4A gene and Rhabdomyolysis PMID 28779239 2017 Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases.