Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28931591
rs28931591
CUI: C0036572
Disease: Seizures
Seizures
A 0.700 CausalMutation CLINVAR Autism in siblings with autosomal dominant nocturnal frontal lobe epilepsy. 22883468

2013

dbSNP: rs28931591
rs28931591
CUI: C0036572
Disease: Seizures
Seizures
A 0.700 CausalMutation CLINVAR Mutations in familial nocturnal frontal lobe epilepsy might be associated with distinct neurological phenotypes. 22036597

2012

dbSNP: rs28931591
rs28931591
CUI: C0036572
Disease: Seizures
Seizures
A 0.700 CausalMutation CLINVAR 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
CUI: C0036572
Disease: Seizures
Seizures
A 0.700 CausalMutation CLINVAR Rats harboring S284L Chrna4 mutation show attenuation of synaptic and extrasynaptic GABAergic transmission and exhibit the nocturnal frontal lobe epilepsy phenotype. 19020039

2008

dbSNP: rs28931591
rs28931591
CUI: C0036572
Disease: Seizures
Seizures
A 0.700 CausalMutation CLINVAR A Korean kindred with autosomal dominant nocturnal frontal lobe epilepsy and mental retardation. 14623738

2003

dbSNP: rs28931591
rs28931591
CUI: C0036572
Disease: Seizures
Seizures
A 0.700 CausalMutation CLINVAR Evidence for S284L mutation of the CHRNA4 in a white family with autosomal dominant nocturnal frontal lobe epilepsy. 12887446

2003

dbSNP: rs28931591
rs28931591
CUI: C0036572
Disease: Seizures
Seizures
A 0.700 CausalMutation 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

dbSNP: rs28931591
rs28931591
CUI: C0036572
Disease: Seizures
Seizures
A 0.700 CausalMutation CLINVAR Electroclinical picture of autosomal dominant nocturnal frontal lobe epilepsy in a Japanese family. 10643924

2000

dbSNP: rs28931591
rs28931591
CUI: C0036572
Disease: Seizures
Seizures
A 0.700 CausalMutation CLINVAR A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy. 10563623

1999