rs527236148
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
[Screening of genetic mutations in a Chinese pedigree affected with hypokalemic periodic paralysis].
|
29419865 |
2018 |
rs121908545
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Sequence CLCN1 and SCN4A in patients with Nondystrophic myotonias in Chinese populations: Genetic and pedigree analysis of 10 families and review of the literature.
|
27415035 |
2017 |
rs1567816549
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
A SCN4A mutation causing paramyotonia congenita.
|
29111379 |
2017 |
rs80338792
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Sequence CLCN1 and SCN4A in patients with Nondystrophic myotonias in Chinese populations: Genetic and pedigree analysis of 10 families and review of the literature.
|
27415035 |
2017 |
rs121908551
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
A Large Dominant Myotonia Congenita Family with a V1293I Mutation in SCN4A.
|
27486940 |
2016 |
rs80338792
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Flecainide-Responsive Myotonia Permanens With SNEL Onset: A New Case and Literature Review.
|
26944947 |
2016 |
rs80338792
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Flecainide-Responsive Myotonia Permanens With SNEL Onset: A New Case and Literature Review.
|
26944947 |
2016 |
rs121908547
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 Comparison.
|
26834636 |
2015 |
rs121908547
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Imaging alterations in skeletal muscle channelopathies: a study in 15 patients.
|
27199537 |
2015 |
rs121908548
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Phenotypic variation of Val1589Met mutation in a four-generation Chinese pedigree with mild paramyotonia congenitia: case report.
|
25755818 |
2015 |
rs121908552
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Imaging alterations in skeletal muscle channelopathies: a study in 15 patients.
|
27199537 |
2015 |
rs121908552
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Phenotypic variability in childhood of skeletal muscle sodium channelopathies.
|
25724373 |
2015 |
rs121908552
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mutations of SCN4A gene cause different diseases: 2 case reports and literature review.
|
25839108 |
2015 |
rs80338785
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mutation analysis of CACNA1S and SCN4A in patients with hypokalemic periodic paralysis.
|
26252573 |
2015 |
rs80338785
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Mutation analysis of CACNA1S and SCN4A in patients with hypokalemic periodic paralysis.
|
26252573 |
2015 |
rs80338785
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Imaging alterations in skeletal muscle channelopathies: a study in 15 patients.
|
27199537 |
2015 |
rs80338788
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mutation analysis of CACNA1S and SCN4A in patients with hypokalemic periodic paralysis.
|
26252573 |
2015 |
rs80338788
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Muscle edema of the lower limb determined by MRI in Asian hypokalaemic periodic paralysis patients.
|
25213595 |
2015 |
rs80338792
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Mutation analysis in exons 22 and 24 of SCN4A gene in Iranian patients with non-dystrophic myotonia.
|
26885337 |
2015 |
rs80338792
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Painful cramps and giant myotonic discharges in a family with the Nav1.4-G1306A mutation.
|
26080010 |
2015 |
rs80338792
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Painful cramps and giant myotonic discharges in a family with the Nav1.4-G1306A mutation.
|
26080010 |
2015 |
rs80338792
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Mutation analysis in exons 22 and 24 of SCN4A gene in Iranian patients with non-dystrophic myotonia.
|
26885337 |
2015 |
rs80338792
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Painful cramps and giant myotonic discharges in a family with the Nav1.4-G1306A mutation.
|
26080010 |
2015 |
rs121908551
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Focal and abnormally persistent paralysis associated with congenital paramyotonia.
|
24939454 |
2014 |
rs527236150
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
NaV1.4 mutations cause hypokalaemic periodic paralysis by disrupting IIIS4 movement during recovery.
|
24549961 |
2014 |