|
Hyperkalemic periodic paralysis
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Both hypokalaemic and normokalaemic periodic paralysis in different members of a single family with novel R1129Q mutation in SCN4A gene.
|
20522878 |
2010 |
|
Hyperkalemic periodic paralysis
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations of sodium channel alpha-subunit genes in Chinese patients with normokalemic periodic paralysis.
|
18046642 |
2008 |
|
Hyperkalemic periodic paralysis
|
|
0.800 |
GeneticVariation
|
UNIPROT |
New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis.
|
15596759 |
2004 |
|
Hyperkalemic periodic paralysis
|
|
0.800 |
GeneticVariation
|
UNIPROT |
EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.
|
20298421 |
2010 |
|
Normokalemic Periodic Paralysis
|
|
0.040 |
GeneticVariation
|
BEFREE |
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 |
|
Normokalemic Periodic Paralysis
|
|
0.040 |
GeneticVariation
|
BEFREE |
We previously reported that R675Q mutation of human skeletal muscle voltage-gated sodium channel α subunit (SCN4A) may be the novel mutation which caused normoPP in Chinese families.
|
24682880 |
2014 |
|
Normokalemic Periodic Paralysis
|
|
0.040 |
GeneticVariation
|
BEFREE |
SCN4A p.R675Q Mutation Leading to Normokalemic Periodic Paralysis: A Family Report and Literature Review.
|
31708864 |
2019 |
|
Normokalemic Periodic Paralysis
|
|
0.040 |
GeneticVariation
|
BEFREE |
In addition to Val-781-Ile and Met1592Val, the mutation g2101a (Arg675Gln) may be the novel mutation of SCN4A genes in Chinese patients with normoKPP.
|
18046642 |
2008 |
|
Hypokalemic periodic paralysis type 1
|
|
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 |
|
Paramyotonia Congenita (disorder)
|
|
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 |
|
Hypokalemic periodic paralysis
|
|
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 |
|
Hyperkalemic periodic paralysis
|
|
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 |
|
Hyperkalemic periodic paralysis
|
|
0.800 |
CausalMutation
|
CLINVAR |
Mutations of sodium channel alpha-subunit genes in Chinese patients with normokalemic periodic paralysis.
|
18046642 |
2008 |
|
Hyperkalemic periodic paralysis
|
|
0.800 |
CausalMutation
|
CLINVAR |
Mutations of SCN4A gene cause different diseases: 2 case reports and literature review.
|
25839108 |
2015 |
|
Hyperkalemic periodic paralysis
|
|
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 |
|
Hyperkalemic periodic paralysis
|
|
0.800 |
CausalMutation
|
CLINVAR |
K+-dependent paradoxical membrane depolarization and Na+ overload, major and reversible contributors to weakness by ion channel leaks.
|
19225109 |
2009 |
|
Hyperkalemic periodic paralysis
|
|
0.800 |
CausalMutation
|
CLINVAR |
New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis.
|
15596759 |
2004 |
|
Hyperkalemic periodic paralysis
|
|
0.800 |
CausalMutation
|
CLINVAR |
Enhanced slow inactivation of the human skeletal muscle sodium channel causing normokalemic periodic paralysis.
|
24682880 |
2014 |
|
Hyperkalemic periodic paralysis
|
|
0.800 |
CausalMutation
|
CLINVAR |
Depolarization-activated gating pore current conducted by mutant sodium channels in potassium-sensitive normokalemic periodic paralysis.
|
19052238 |
2008 |
|
Anteverted nostril
|
|
0.700 |
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 |
|
Normokalemic Periodic Paralysis, Potassium-Sensitive
|
|
0.700 |
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 |
|
Primary Caesarian section
|
|
0.700 |
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 |
|
Abnormal delivery
|
|
0.700 |
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 |
|
Increased variability in muscle fiber diameter
|
|
0.700 |
CausalMutation
|
CLINVAR |
New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis.
|
15596759 |
2004 |
|
Gastrostomy tube feeding in infancy
|
|
0.700 |
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 |