| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | GeneticVariation | CLINVAR | Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. | 27864847 | 2017 |
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A | 0.700 | GeneticVariation | CLINVAR | Functional analysis of human Na(+)/K(+)-ATPase familial or sporadic hemiplegic migraine mutations expressed in Xenopus oocytes. | 24921013 | 2014 |
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A | 0.700 | GeneticVariation | CLINVAR | Crystal structure of the sodium-potassium pump at 2.4 A resolution. | 19458722 | 2009 |
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A | 0.700 | GeneticVariation | CLINVAR | Epilepsy as part of the phenotype associated with ATP1A2 mutations. | 18028407 | 2008 |
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|
0.020 | GeneticVariation | BEFREE | Twelve familial hemiplegic migraine (FHM) patients (6 with the I1811L mutation in CACNA1A, 3 with M731T mutation in ATP1A2, and 3 without known mutations) and 10 control subjects underwent single-fiber EMG. | 15557518 | 2004 |
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|
0.020 | GeneticVariation | BEFREE | The M731T mutation was found in a family with pure FHM. | 12953268 | 2003 |
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0.010 | GeneticVariation | BEFREE | We describe a four-generation Italian family with familial hemiplegic migraine (FHM) and epilepsy due to a novel ATP1A2 missense mutation (R1007W). | 23838748 | 2013 |
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|
0.010 | GeneticVariation | BEFREE | The authors detected a novel mutation in the ATP1A2 gene (R548H) in members of a family with BM, suggesting that BM and FHM may be allelic disorders. | 16344534 | 2005 |
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|
0.010 | GeneticVariation | BEFREE | We sequenced the coding regions of this gene in a Finnish chromosome 1q23-linked FHM family with associated symptoms such as coma and identified a novel A1033G mutation in exon 9. | 15133718 | 2004 |
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|
0.010 | GeneticVariation | BEFREE | The R689Q mutation was identified in a family in which FHM and benign familial infantile convulsions partially cosegregate. | 12953268 | 2003 |