|
rs121908544
|
|
|
0.850 |
GeneticVariation |
BEFREE |
Our results suggest that the R1448C/R1448H mutations are by far the most common to be associated with the PC phenotype in the German population.
|
8005599 |
1994 |
|
rs121908544
|
|
|
0.850 |
GeneticVariation |
BEFREE |
The authors report a family where the proband and three of her four children have PC (mutation R1448C) and present repolarization abnormalities at electrocardiogram.
|
12552059 |
2003 |
|
rs121908544
|
|
|
0.850 |
GeneticVariation |
BEFREE |
This case demonstrates that SCN4A Arg1448Cys can produce paralysis periodica paramyotonica.
|
16801039 |
2006 |
|
rs121908544
|
|
|
0.850 |
GeneticVariation |
BEFREE |
C4342T-mutation in the SCN4A gene on chromosome 17q in a Swedish family with paramyotonia congenita (Eulenburg)--correlations with clinical, neurophysiological and muscle biopsy data.
|
9196904 |
1997 |
|
rs121908544
|
|
|
0.850 |
GeneticVariation |
BEFREE |
A Korean family with Arg1448Cys mutation of SCN4A channel causing paramyotonia congenita: electrophysiologic, histopathologic, and molecular genetic studies.
|
12483017 |
2002 |
|
rs80338957
|
|
|
0.840 |
GeneticVariation |
BEFREE |
The association between T704M and the hyperPP/PMC phenotype has been only recently revealed.
|
12933953 |
2003 |
|
rs80338957
|
|
|
0.840 |
GeneticVariation |
BEFREE |
Phenotypic variation of the Thr704Met mutation, which was previously reported in patients with hyperkalaemic periodic paralysis, is described in a family affected with paralysis periodica paramyotonia.
|
11309455 |
2001 |
|
rs80338957
|
|
|
0.840 |
GeneticVariation |
BEFREE |
These observations confirmed that TAs were associated with T704M mutations of SCN4A in paralysis periodica paramyotonica.Some proteins can mislocate in the TAs.
|
19077043 |
2009 |
|
rs80338957
|
|
|
0.840 |
GeneticVariation |
BEFREE |
The first proband and part of his family with the overlap of PMC and hyperkalemic periodic paralysis (HyperPP) has been identified as c.2111C > T (T704M) substitution of the gene SCN4A.
|
30931713 |
2019 |
|
rs121908545
|
|
|
0.820 |
GeneticVariation |
BEFREE |
The second proband and part of his family with the overlap of PMC and hypokalemic periodic paralysis type 2 (HypoPP2) has been identified as c.4343G > A (R1448H) substitution of the gene SCN4A.
|
30931713 |
2019 |
|
rs121908545
|
|
|
0.820 |
GeneticVariation |
BEFREE |
Our results suggest that the R1448C/R1448H mutations are by far the most common to be associated with the PC phenotype in the German population.
|
8005599 |
1994 |
|
rs121908547
|
|
|
0.820 |
GeneticVariation |
BEFREE |
Five families with either PC or PC with myotonia permanens had the Thr1313Met mutation indicating that the severity of myotonia and its permanence were variable.
|
8044656 |
1994 |
|
rs121908547
|
|
|
0.820 |
GeneticVariation |
BEFREE |
A child carrying the Thr1313Met SCN4A mutation associated with paramyotonia congenita.
|
21220685 |
2011 |
|
rs121908548
|
|
|
0.810 |
GeneticVariation |
BEFREE |
We report a phenotype associated with the Val1589Met substitution in SCN4A gene in a French family which would be better classified as paramyotonia congenita.
|
16624558 |
2006 |
|
rs121908551
|
|
|
0.810 |
GeneticVariation |
BEFREE |
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.
|
8580427 |
1995 |
|
rs121908554
|
|
|
0.810 |
GeneticVariation |
BEFREE |
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.
|
10369308 |
1999 |
|
rs80338792
|
|
|
0.810 |
GeneticVariation |
BEFREE |
One family with PC displayed the Gly1306Val mutation with a phenotype similar to the one already reported for this mutation.
|
8044656 |
1994 |
|
rs80338962
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Severe phenotypes of paralysis periodica paramyotonia are associated with the Met1592Val mutation in the voltage-gated sodium channel gene (SCN4A) in a Chinese family.
|
21665479 |
2011 |
|
rs80338962
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Paramyotonia congenita and hyperkalemic periodic paralysis associated with a Met 1592 Val substitution in the skeletal muscle sodium channel alpha subunit--a large kindred with a novel phenotype.
|
9131651 |
1997 |
|
rs121908552
|
|
|
0.710 |
GeneticVariation |
BEFREE |
As a result, heterozygous mutations c.2024G>A (R675Q) and c.1333G>A (V445M) of gene SCN4A were identified in the hypokalemic periodic paralysis patient and the paramyotonia congenita family respectively.
|
25839108 |
2015 |
|
rs121908552
|
|
|
0.710 |
GeneticVariation |
BEFREE |
As a result, heterozygous mutations c.2024G>A (R675Q) and c.1333G>A (V445M) of gene SCN4A were identified in the hypokalemic periodic paralysis patient and the paramyotonia congenita family respectively.
|
25839108 |
2015 |
|
rs1042522
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The P allele of the P72R polymorphism was more common than the R allele in PMC patients compared to controls (39% vs. 24%), and the difference was significant (p = 0.02).
|
29333597 |
2017 |
|
rs1131691014
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The P allele of the P72R polymorphism was more common than the R allele in PMC patients compared to controls (39% vs. 24%), and the difference was significant (p = 0.02).
|
29333597 |
2017 |
|
rs121908557
|
|
|
0.010 |
GeneticVariation |
BEFREE |
As a result, heterozygous mutations c.2024G>A (R675Q) and c.1333G>A (V445M) of gene SCN4A were identified in the hypokalemic periodic paralysis patient and the paramyotonia congenita family respectively.
|
25839108 |
2015 |
|
rs774843953
|
|
|
0.010 |
GeneticVariation |
BEFREE |
While five patients had a clinical diagnosis of myotonia congenita, the patient with the F428S mutation exhibited symptoms characteristic of paramyotonia congenita--a condition usually thought to be caused by mutations in the sodium channel gene SCN4A.
|
12390967 |
2002 |