Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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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 |
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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 |
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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 |
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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 |
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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 |
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0.070 | GeneticVariation | BEFREE | The Glu815Lys genotype appears to be associated with the most severe AHC phenotype. | 24431296 | 2014 |
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0.070 | GeneticVariation | BEFREE | Using Sanger sequencing, E815K was found in two other sporadic cases of AHC. | 23409136 | 2013 |