Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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A | 0.700 | CausalMutation | 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 | CausalMutation | CLINVAR | An Infant With Epilepsy and Recurrent Hemiplegia due to Compound Heterozygous Variants in ATP1A2. | 28811059 | 2017 |
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A | 0.700 | CausalMutation | CLINVAR | A missense variant of the ATP1A2 gene is associated with a novel phenotype of progressive sensorineural hearing loss associated with migraine. | 25138102 | 2015 |
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A | 0.700 | CausalMutation | CLINVAR | A novel ATP1A2 gene mutation in familial hemiplegic migraine and epilepsy. | 23918834 | 2014 |
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A | 0.700 | CausalMutation | 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 | CausalMutation | CLINVAR | First case of compound heterozygosity in Na,K-ATPase gene ATP1A2 in familial hemiplegic migraine. | 17473835 | 2007 |
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A | 0.700 | CausalMutation | CLINVAR | ATP1A2 mutations in 11 families with familial hemiplegic migraine. | 16088919 | 2005 |
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A | 0.700 | CausalMutation | CLINVAR | Familial basilar migraine associated with a new mutation in the ATP1A2 gene. | 16344534 | 2005 |
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A | 0.700 | CausalMutation | CLINVAR | Alternating hemiplegia of childhood or familial hemiplegic migraine? A novel ATP1A2 mutation. | 15174025 | 2004 |
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A | 0.700 | CausalMutation | CLINVAR | A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood. | 15286158 | 2004 |
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A | 0.700 | CausalMutation | CLINVAR | Alternating hemiplegia of childhood: a syndrome inherited with an autosomal dominant trait. | 14667076 | 2003 |
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A | 0.700 | CausalMutation | CLINVAR | A syndrome of autosomal dominant alternating hemiplegia: clinical presentation mimicking intractable epilepsy; chromosomal studies; and physiologic investigations. | 1361034 | 1992 |