| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | CausalMutation | CLINVAR | Clinical, biochemical, and molecular studies in pyridoxine-dependent epilepsy. Antisense therapy as possible new therapeutic option. | 23350806 | 2013 |
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|
T | 0.700 | CausalMutation | CLINVAR | Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency). | 20554659 | 2010 |
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|
T | 0.700 | CausalMutation | CLINVAR | Clinical features and the management of pyridoxine-dependent and pyridoxine-responsive seizures: review of 63 North American cases submitted to a patient registry. | 18762976 | 2009 |
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|
T | 0.700 | CausalMutation | CLINVAR | Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy. | 19142996 | 2009 |
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|
T | 0.700 | CausalMutation | CLINVAR | Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels. | 17088338 | 2007 |
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|
T | 0.700 | CausalMutation | CLINVAR | Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene. | 17068770 | 2007 |
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|
T | 0.700 | CausalMutation | CLINVAR | Mutations in antiquitin in individuals with pyridoxine-dependent seizures. | 16491085 | 2006 |
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|
T | 0.700 | CausalMutation | CLINVAR | Epidemiology of pyridoxine dependent seizures in the Netherlands. | 16159904 | 2005 |
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|
T | 0.700 | CausalMutation | CLINVAR | Pyridoxine-dependent seizures: demographic, clinical, MRI and psychometric features, and effect of dose on intelligence quotient. | 8913181 | 1996 |