| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.800 | CausalMutation | CLINVAR | Severe myoclonic epilepsy in infancy: clinical analysis and relation to SCN1A mutations in a Japanese cohort. | 15508916 | 2005 |
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|
T | 0.800 | CausalMutation | CLINVAR | Effect of localization of missense mutations in SCN1A on epilepsy phenotype severity. | 15277629 | 2004 |
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|
0.800 | GeneticVariation | UNIPROT | Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB). | 14738421 | 2004 |
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|
0.800 | GeneticVariation | UNIPROT | Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy. | 15087100 | 2004 |
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|
T | 0.800 | CausalMutation | CLINVAR | Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB). | 14738421 | 2004 |
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|
0.800 | GeneticVariation | UNIPROT | Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures. | 12566275 | 2003 |
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|
0.800 | GeneticVariation | UNIPROT | De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy. | 12754708 | 2003 |
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|
0.800 | GeneticVariation | UNIPROT | Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy. | 12821740 | 2003 |
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|
0.800 | GeneticVariation | UNIPROT | Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A. | 14672992 | 2003 |