Condition: Paramyotonia Congenita (disorder)


rs80338956 in LOC105371858;SCN4A gene and Paramyotonia Congenita (disorder) PMID 10727489 2000 Clinical, electrophysiological, and molecular genetic studies in a new family with paramyotonia congenita.

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

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

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

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

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

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

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

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

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

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

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

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

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

rs121908544 in SCN4A gene and Paramyotonia Congenita (disorder) PMID 8388676 1993 Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis.

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

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

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

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

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

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

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

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

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

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

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

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

PMID 8580427 1995 In this study we present three German families with PC without cold paralysis, provide evidence that the disorder is linked to the SCN4A gene and report a novel SCN4A mutation (Val1293Ile) segregating in these families.

PMID 10369308 1999 In addition to the G1456E identified in this study, 4 mutations that cause a decrease in positive charge in the S4/D4 are associated with the phenotype of PMC of von Eulenburg.

PMID 19077043 2009 These observations confirmed that TAs were associated with T704M mutations of SCN4A in paralysis periodica paramyotonica.Some proteins can mislocate in the TAs.