| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | CausalMutation | CLINVAR | De novo GABRA1 mutations in Ohtahara and West syndromes. | 26918889 | 2016 |
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|
A | 0.700 | CausalMutation | CLINVAR | Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies. | 27521439 | 2016 |
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|
A | 0.700 | CausalMutation | CLINVAR | Copy number variation plays an important role in clinical epilepsy. | 24811917 | 2014 |
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|
A | 0.700 | CausalMutation | CLINVAR | GABRA1 and STXBP1: novel genetic causes of Dravet syndrome. | 24623842 | 2014 |
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|
A | 0.700 | CausalMutation | CLINVAR | De novo mutations in epileptic encephalopathies. | 23934111 | 2013 |
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|
A | 0.700 | CausalMutation | CLINVAR | Novel α1 and γ2 GABAA receptor subunit mutations in families with idiopathic generalized epilepsy. | 21714819 | 2011 |
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|
A | 0.700 | CausalMutation | CLINVAR | Rare copy number variants are an important cause of epileptic encephalopathies. | 22190369 | 2011 |
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|
A | 0.700 | CausalMutation | CLINVAR | GABA(A) receptor alpha1 subunit mutation A322D associated with autosomal dominant juvenile myoclonic epilepsy reduces the expression and alters the composition of wild type GABA(A) receptors. | 20551311 | 2010 |
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|
A | 0.700 | CausalMutation | CLINVAR | A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy. | 16718694 | 2006 |
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|
A | 0.700 | CausalMutation | CLINVAR | Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy. | 11992121 | 2002 |
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|
A | 0.700 | CausalMutation | CLINVAR | Structure and organization of GABRB3 and GABRA5. | 9126483 | 1997 |