| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.440 | CausalMutation | phenotype | CLINVAR | Autism in siblings with autosomal dominant nocturnal frontal lobe epilepsy. | 22883468 | 2013 | ||||
|
0.440 | CausalMutation | phenotype | CLINVAR | Mutations in familial nocturnal frontal lobe epilepsy might be associated with distinct neurological phenotypes. | 22036597 | 2012 | ||||
|
0.440 | CausalMutation | phenotype | CLINVAR | Autosomal dominant nocturnal frontal lobe epilepsy: a genotypic comparative study of Japanese and Korean families carrying the CHRNA4 Ser284Leu mutation. | 21753767 | 2011 | ||||
|
0.440 | CausalMutation | phenotype | CLINVAR | Rats harboring S284L Chrna4 mutation show attenuation of synaptic and extrasynaptic GABAergic transmission and exhibit the nocturnal frontal lobe epilepsy phenotype. | 19020039 | 2008 | ||||
|
0.440 | CausalMutation | phenotype | CLINVAR | Evidence for S284L mutation of the CHRNA4 in a white family with autosomal dominant nocturnal frontal lobe epilepsy. | 12887446 | 2003 | ||||
|
0.440 | CausalMutation | phenotype | CLINVAR | A Korean kindred with autosomal dominant nocturnal frontal lobe epilepsy and mental retardation. | 14623738 | 2003 | ||||
|
0.440 | CausalMutation | phenotype | CLINVAR | Mutation (Ser284Leu) of neuronal nicotinic acetylcholine receptor alpha 4 subunit associated with frontal lobe epilepsy causes faster desensitization of the rat receptor expressed in oocytes. | 11904236 | 2002 | ||||
|
0.440 | CausalMutation | phenotype | CLINVAR | Electroclinical picture of autosomal dominant nocturnal frontal lobe epilepsy in a Japanese family. | 10643924 | 2000 | ||||
|
0.440 | CausalMutation | phenotype | CLINVAR | A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy. | 10563623 | 1999 |