rs80338957
|
|
Hyperkalemic periodic paralysis
|
A |
0.850 |
CausalMutation
|
CLINVAR |
We performed whole-body muscle MRI in seven hyperKPP patients carrying the T704M mutation in the SCN4A skeletal sodium-channel gene.
|
26256659 |
2015 |
rs80338957
|
|
Hyperkalemic periodic paralysis
|
A |
0.850 |
CausalMutation
|
CLINVAR |
Here, we report the case of a 16-year-old girl with HYPP whose mutational analysis revealed a heterozygous c.2111C>T substitution in the SCN4A gene leading to a Thr704Met mutation in the protein sequence.
|
22253644 |
2011 |
rs80338957
|
|
Hyperkalemic periodic paralysis
|
A |
0.850 |
CausalMutation
|
CLINVAR |
Tubular aggregates in paralysis periodica paramyotonica with T704M mutation of SCN4A.
|
19077043 |
2009 |
rs80338957
|
|
Hyperkalemic periodic paralysis
|
A |
0.850 |
CausalMutation
|
CLINVAR |
Genotype-phenotype correlation and therapeutic rationale in hyperkalemic periodic paralysis.
|
17395131 |
2007 |
rs80338957
|
|
Hyperkalemic periodic paralysis
|
A |
0.850 |
CausalMutation
|
CLINVAR |
Familial periodic paralysis and Charcot-Marie-Tooth disease in a 7-generation family.
|
15642860 |
2005 |
rs80338957
|
|
Hyperkalemic periodic paralysis
|
A |
0.850 |
CausalMutation
|
CLINVAR |
These results, showing that the I1495F and T704M hyperkalaemic periodic paralysis mutations both have profound effects on channel activation and fast-slow inactivation, suggest that the S5 segment maybe in a location where fast and slow inactivation converge.
|
10366610 |
1999 |
rs80338957
|
|
Hyperkalemic periodic paralysis
|
A |
0.850 |
CausalMutation
|
CLINVAR |
Sodium channel mutations in paramyotonia congenita exhibit similar biophysical phenotypes in vitro.
|
7809121 |
1994 |
rs80338957
|
|
Hyperkalemic periodic paralysis
|
A |
0.850 |
CausalMutation
|
CLINVAR |
Identification of a mutation in the gene causing hyperkalemic periodic paralysis.
|
1659948 |
1991 |
rs80338962
|
|
Hyperkalemic periodic paralysis
|
C |
0.820 |
CausalMutation
|
CLINVAR |
Contractile abnormalities of mouse muscles expressing hyperkalemic periodic paralysis mutant NaV1.4 channels do not correlate with Na+ influx or channel content.
|
24714718 |
2014 |
rs80338962
|
|
Hyperkalemic periodic paralysis
|
C |
0.820 |
CausalMutation
|
CLINVAR |
[Normokalemic periodic paralysis lasting for two weeks: a severe form of sodium channelopathy with M1592V mutation].
|
24943082 |
2014 |
rs80338962
|
|
Hyperkalemic periodic paralysis
|
C |
0.820 |
CausalMutation
|
CLINVAR |
A patient with mutation in the SCN4A p.M1592v presenting with fixed weakness, rhabdomyolysis, and episodic worsening of weakness.
|
23801527 |
2013 |
rs80338962
|
|
Hyperkalemic periodic paralysis
|
C |
0.820 |
CausalMutation
|
CLINVAR |
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
|
|
Hyperkalemic periodic paralysis
|
C |
0.820 |
CausalMutation
|
CLINVAR |
Mutations of sodium channel alpha-subunit genes in Chinese patients with normokalemic periodic paralysis.
|
18046642 |
2008 |
rs80338962
|
|
Hyperkalemic periodic paralysis
|
C |
0.820 |
CausalMutation
|
CLINVAR |
One such substitution, methionine for valine at position 1592, has been associated with HyperPP with myotonia and cold sensitivity.
|
9131651 |
1997 |
rs80338962
|
|
Hyperkalemic periodic paralysis
|
C |
0.820 |
CausalMutation
|
CLINVAR |
In addition, the close-by occurring substitution of valine for methionine at position 1592 known to cause hyperkalemic periodic paralysis was deduced for six families with the myotonic, non-dystrophic form of this disease.
|
8242056 |
1993 |
rs80338962
|
|
Hyperkalemic periodic paralysis
|
C |
0.820 |
CausalMutation
|
CLINVAR |
A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis.
|
1659668 |
1991 |
rs121908556
|
|
Hyperkalemic periodic paralysis
|
C |
0.800 |
CausalMutation
|
CLINVAR |
In 4 hyperKPP patients from 2 families, molecular analyses revealed Arg675Gly and Arg675Gln mutations of SCN4A, which were previously reported to cause normoKPP.
|
22926674 |
2012 |
rs121908556
|
|
Hyperkalemic periodic paralysis
|
C |
0.800 |
CausalMutation
|
CLINVAR |
Depolarization-activated gating pore current conducted by mutant sodium channels in potassium-sensitive normokalemic periodic paralysis.
|
19052238 |
2008 |
rs121908556
|
|
Hyperkalemic periodic paralysis
|
C |
0.800 |
CausalMutation
|
CLINVAR |
New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis.
|
15596759 |
2004 |
rs121908556
|
|
Hyperkalemic periodic paralysis
|
A |
0.800 |
CausalMutation
|
CLINVAR |
New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis.
|
15596759 |
2004 |
rs121908557
|
|
Hyperkalemic periodic paralysis
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Mutations of SCN4A gene cause different diseases: 2 case reports and literature review.
|
25839108 |
2015 |
rs121908557
|
|
Hyperkalemic periodic paralysis
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Enhanced slow inactivation of the human skeletal muscle sodium channel causing normokalemic periodic paralysis.
|
24682880 |
2014 |
rs121908557
|
|
Hyperkalemic periodic paralysis
|
T |
0.800 |
CausalMutation
|
CLINVAR |
In 4 hyperKPP patients from 2 families, molecular analyses revealed Arg675Gly and Arg675Gln mutations of SCN4A, which were previously reported to cause normoKPP.
|
22926674 |
2012 |
rs121908557
|
|
Hyperkalemic periodic paralysis
|
T |
0.800 |
CausalMutation
|
CLINVAR |
K+-dependent paradoxical membrane depolarization and Na+ overload, major and reversible contributors to weakness by ion channel leaks.
|
19225109 |
2009 |
rs121908557
|
|
Hyperkalemic periodic paralysis
|
T |
0.800 |
CausalMutation
|
CLINVAR |
[The construction and preliminary investigation of the cell model of a novel mutation R675Q in the SCN4A gene identified in a Chinese family with normokalemic periodic paralysis].
|
19065518 |
2008 |