Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28931591
rs28931591
CHRNA4
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
CHRNA4
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
CHRNA4
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
CHRNA4
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
CHRNA4
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
CHRNA4
A 0.720 CausalMutation CLINVAR A de novo mutation in sporadic nocturnal frontal lobe epilepsy. 10939581

2000
dbSNP: rs28931591
rs28931591
CHRNA4
A 0.720 CausalMutation CLINVAR A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy. 10563623

1999