|
rs387907281
|
|
|
0.070 |
GeneticVariation |
BEFREE |
Several mutations such as the relatively common p.E815K pathogenic variant have been shown to strongly correlate with AHC, while others may cause both AHC and RDP.
|
29801192 |
2018 |
|
rs387907281
|
|
|
0.070 |
GeneticVariation |
BEFREE |
We conclude that: 1) Our mouse model containing the E815K mutation manifests clinical and neurophysiological features of the most severe form of AHC, 2) Flunarizine demonstrated acute anti-hemiplegic effects but not long-term beneficial or detrimental behavioral effects after it was stopped, and 3) The Matb<sup>+/-</sup> mouse model can be used to investigate the underlying pathophysiology of ATP1A3 dysfunction and the efficacy of potential treatments for AHC.
|
30071271 |
2018 |
|
rs387907281
|
|
|
0.070 |
GeneticVariation |
BEFREE |
This study further expands the number and spectrum of ATP1A3 mutations associated with AHC and confirms a more deleterious effect of the E815K mutation on selected neurologic outcomes.
|
25996915 |
2015 |
|
rs387907281
|
|
|
0.070 |
GeneticVariation |
BEFREE |
Correlations between different mutations and AHC severity were recently reported, with E815K identified in severe and D801N and G947R in milder cases.
|
25681536 |
2015 |
|
rs387907281
|
|
|
0.070 |
GeneticVariation |
BEFREE |
The aim of this study was to determine the functional consequences of six ATP1A3 mutations (S137Y, D220N, I274N, D801N, E815K, and G947R) associated with AHC.
|
24631656 |
2014 |
|
rs387907281
|
|
|
0.070 |
GeneticVariation |
BEFREE |
The Glu815Lys genotype appears to be associated with the most severe AHC phenotype.
|
24431296 |
2014 |
|
rs387907281
|
|
|
0.070 |
GeneticVariation |
BEFREE |
Using Sanger sequencing, E815K was found in two other sporadic cases of AHC.
|
23409136 |
2013 |
|
rs398122887
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Fibroblasts derived from two subjects with AHC, a male and a female, both heterozygous for the common ATP1A3 mutation G947R, were reprogrammed to iPSCs.
|
29567111 |
2018 |
|
rs12979860
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Although these 2 SNPs, rs8099917 and rs12979860, have established their significant roles in the innate immunity response to spontaneously clear HCV in patients with AHC, the detailed mechanisms of their roles remain largely unknown.
|
29040985 |
2017 |
|
rs80356537
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Position D801 in the α3 isoform is a mutational hotspot, with the D801N, D801E and D801V mutations causing AHC and the D801Y mutation causing RDP or mild AHC.
|
27549929 |
2016 |
|
rs398122887
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Correlations between different mutations and AHC severity were recently reported, with E815K identified in severe and D801N and G947R in milder cases.
|
25681536 |
2015 |
|
rs80356537
|
|
|
0.030 |
GeneticVariation |
BEFREE |
A de novo heterozygous missense mutation (c.2401G>A; p.D801N) was identified in exon 17 of ATP1A3 gene and this is one of the hotspot mutations found in AHC patients.
|
25662428 |
2015 |
|
rs80356537
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Correlations between different mutations and AHC severity were recently reported, with E815K identified in severe and D801N and G947R in milder cases.
|
25681536 |
2015 |
|
rs398122887
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Functional impairment of Na(+),K(+)-ATPase in mutants S137Y, I274N, D801N, E815K, and G947R might explain why patients having these mutations suffer from AHC.
|
24631656 |
2014 |
|
rs12979860
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The IL28B rs12979860 C/C genotype was more frequent among patients with AHC than controls (62.5% vs 39.6%; P < .001) and among patients with spontaneous clearance than those without (74.6% vs 51.7%; P = .02) (positive predictive value, 60.3%).
|
22192885 |
2012 |
|
rs12979860
|
|
|
0.030 |
GeneticVariation |
BEFREE |
In the AHC group, 31 (81.6%) rs12979860 CC carriers were infected with HCV genotype 1 or 4 vs. 32 (76.2%) among non-CC carriers (P=0.948).
|
21375685 |
2011 |
|
rs536681257
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Most ATP1A3 mutations in AHC lie within a cluster in or near transmembrane α-helix TM6, including I810N that is also found in the Myshkin mouse model of AHC.
|
26463346 |
2016 |
|
rs536681257
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Myshkin mutant mice carry an amino acid change (I810N) that affects the same position in Na(+),K(+)-ATPase α3 as I810S found in AHC.
|
23527305 |
2013 |
|
rs557052809
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our case suggests that the phenotype of AHC with p.G755S mutation is not necessarily mild, despite such a presentation during the patient's younger years.
|
29269014 |
2018 |
|
rs606231436
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We conducted neurologic and neuroimaging examinations, as well as a neuropsychological assessment, of two men (22 and 30 years old) with mutations in the ATP1A3 gene (p.Leu757Pro and p.Val332Glu) who were experiencing typical AHC transient episodes of alternating weakness or paralysis in order to investigate causes of their poor social functioning.
|
30562231 |
2018 |
|
rs1064797245
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This study confirmed that p.R756C mutation of ATP1A3 cause atypical forms of AHC-associated disorders.
|
27634470 |
2016 |
|
rs1345986424
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A pathogenic de novo SLC2A1 mutation (p.Gly18Arg) was found in the atypical patient with overlapping symptoms of AHC and hemiplegic migraine.
|
24824604 |
2015 |
|
rs782461379
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A pathogenic de novo SLC2A1 mutation (p.Gly18Arg) was found in the atypical patient with overlapping symptoms of AHC and hemiplegic migraine.
|
24824604 |
2015 |
|
rs387907373
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A careful analysis of the pedigree of this family lead to the recognition of an X-linked inheritance pattern, with subsequent confirmation in a female heterozygous carrier of a DAX1 missense mutation c.1274G>T, (p.Arg425Ile).The diagnosis of this condition remains challenging in a developing country, since the manifestations of AHC overlap with those of the much more frequently occurring infections; darkening of the skin is difficult to evaluate and there is a lack of access to routine endocrinological testing.
|
21739173 |
2012 |
|
rs8099917
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The IL28B SNPs rs12979860 and rs8099917 were detected using real-time polymerase chain reaction; serum concentrations of IP-10 were measured by enzyme-linked immunosorbent assays of 62 patients with AHC.
|
22192885 |
2012 |