Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315291
rs74315291
0.730 GeneticVariation BEFREE To investigate this issue of phenotypic heterogeneity, we prospectively carried out a high-resolution 3-T magnetic resonance imaging (MRI) study in an ADNFLE family containing 10 affected members including one pharmacoresistant patient and carrying the V287L mutation of the CHRN beta2 subunit (CHRNB2). 22897520

2013

dbSNP: rs74315291
rs74315291
0.730 GeneticVariation BEFREE Mutation analysis of the CHRNB2 gene revealed a c.859G>A transition (Val287Met) within the second transmembrane domain, identical to that previously described in a Scottish ADNFLE family. 17900292

2008

dbSNP: rs74315291
rs74315291
0.730 GeneticVariation BEFREE Twenty-four autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) probands were analyzed for the presence of V287L and V287M mutations in the CHRNB2 gene, which have been recently associated with the disease. 11952766

2002

dbSNP: rs74315291
rs74315291
A 0.730 CausalMutation CLINVAR

dbSNP: rs28931591
rs28931591
A 0.720 CausalMutation CLINVAR A de novo mutation in an Italian sporadic patient affected by nocturnal frontal lobe epilepsy. 22118295

2012

dbSNP: rs28931591
rs28931591
0.720 GeneticVariation BEFREE Autosomal dominant nocturnal frontal lobe epilepsy: a genotypic comparative study of Japanese and Korean families carrying the CHRNA4 Ser284Leu mutation. 21753767

2011

dbSNP: rs28931591
rs28931591
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

dbSNP: rs28931591
rs28931591
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

dbSNP: rs28931591
rs28931591
0.720 GeneticVariation BEFREE This is the first report of an occurrence of c.851C>T transition in a white family with ADNFLE. 12887446

2003

dbSNP: rs28931591
rs28931591
A 0.720 CausalMutation CLINVAR A de novo mutation in sporadic nocturnal frontal lobe epilepsy. 10939581

2000

dbSNP: rs28931591
rs28931591
A 0.720 CausalMutation CLINVAR A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy. 10563623

1999

dbSNP: rs104894063
rs104894063
T 0.700 CausalMutation CLINVAR

dbSNP: rs121909580
rs121909580
0.030 GeneticVariation BEFREE To examine possible mechanisms underlying this inherited epilepsy, we engineered two ADNFLE mutations (Chrna4(S252F) and Chrna4(+L264)) in mice. 17146052

2006

dbSNP: rs121909580
rs121909580
0.030 GeneticVariation BEFREE Autosomal dominant nocturnal frontal lobe epilepsy in a Spanish family with a Ser252Phe mutation in the CHRNA4 gene. 10448807

1999

dbSNP: rs121909580
rs121909580
0.030 GeneticVariation BEFREE SER252PHE and 776INS3 mutations in the CHRNA4 gene are rare in the Italian ADNFLE population. 10450598

1999

dbSNP: rs568970047
rs568970047
0.010 GeneticVariation BEFREE Exome sequencing identified a novel missense mutation c.464G>A (p.G155D) in Ca<sup>2+</sup>-binding protein 4 (<i>CABP4</i>) in a Chinese pedigree with autosomal dominant nocturnal frontal lobe epilepsy. 29108277

2017

dbSNP: rs281865071
rs281865071
0.010 GeneticVariation BEFREE Autosomal dominant nocturnal frontal lobe epilepsy and mild memory impairment associated with CHRNB2 mutation I312M in the neuronal nicotinic acetylcholine receptor. 18534914

2008

dbSNP: rs772253190
rs772253190
0.010 GeneticVariation BEFREE Mutation analysis of the CHRNB2 gene revealed a c.859G>A transition (Val287Met) within the second transmembrane domain, identical to that previously described in a Scottish ADNFLE family. 17900292

2008

dbSNP: rs928557634
rs928557634
0.010 GeneticVariation BEFREE Twenty-four autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) probands were analyzed for the presence of V287L and V287M mutations in the CHRNB2 gene, which have been recently associated with the disease. 11952766

2002