| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
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 | CausalMutation | 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 | Prolonged sporadic hemiplegic migraine associated with a novel de novo missense ATP1A2 gene mutation. | 21352219 | 2011 |
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|
A | 0.700 | GeneticVariation | CLINVAR | De novo mutations in ATP1A2 and CACNA1A are frequent in early-onset sporadic hemiplegic migraine. | 20837964 | 2010 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Familial hemiplegic migraine is associated with febrile seizures in an FHM2 family with a novel de novo ATP1A2 mutation. | 19874388 | 2009 |
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|
A | 0.700 | CausalMutation | CLINVAR | Familial hemiplegic migraine is associated with febrile seizures in an FHM2 family with a novel de novo ATP1A2 mutation. | 19874388 | 2009 |
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|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
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 | 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 |