Condition: Potassium aggravated myotonia


rs121908549 in SCN4A gene and Potassium aggravated myotonia PMID 18203179 2008 Severe neonatal non-dystrophic myotonia secondary to a novel mutation of the voltage-gated sodium channel (SCN4A) gene.

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

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

PMID 16832098 2006 Autosomal dominant monosymptomatic myotonia permanens.

PMID 27653901 2016 A case of non-dystrophic myotonia with concomitant mutations in the SCN4A and CLCN1 genes.

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

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

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

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

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

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

PMID 17998485 2007 In the other 11 families comprising 66% of cases (44/66), a new dominant SCN4A mutation in exon 24 (M1476I) was uncovered and segregated with a variable SCM phenotype.

PMID 16832098 2006 Myotonia permanens is associated with a G1306E mutation in the SCN4A gene.

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

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.