Source: CURATED ×
Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.720 | CausalMutation | CLINVAR | A de novo mutation in an Italian sporadic patient affected by nocturnal frontal lobe epilepsy. | 22118295 | 2012 |
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|
A | 0.720 | CausalMutation | CLINVAR | Nicotine normalizes intracellular subunit stoichiometry of nicotinic receptors carrying mutations linked to autosomal dominant nocturnal frontal lobe epilepsy. | 19237585 | 2009 |
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|
A | 0.720 | CausalMutation | CLINVAR | This is the first report of an occurrence of c.851C>T transition in a white family with ADNFLE. | 12887446 | 2003 |
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|
A | 0.720 | CausalMutation | CLINVAR | A de novo mutation in sporadic nocturnal frontal lobe epilepsy. | 10939581 | 2000 |
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|
A | 0.720 | CausalMutation | CLINVAR | A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy. | 10563623 | 1999 |