rs121909580
×
Entrez Id:
1137
Gene Symbol:
CHRNA4
CHRNA4
Epilepsy, Nocturnal Frontal Lobe, Type 1
0.800
GeneticVariation
UNIPROT
A Korean kindred with autosomal dominant nocturnal frontal lobe epilepsy and mental retardation.
14623738
2003
rs121909580
×
Entrez Id:
1137
Gene Symbol:
CHRNA4
CHRNA4
Epilepsy, Nocturnal Frontal Lobe, Type 1
0.800
GeneticVariation
UNIPROT
A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy.
10563623
1999
rs121909580
×
Entrez Id:
1137
Gene Symbol:
CHRNA4
CHRNA4
Epilepsy, Nocturnal Frontal Lobe, Type 1
0.800
GeneticVariation
UNIPROT
A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy.
7550350
1995
rs121909580
×
Entrez Id:
1137
Gene Symbol:
CHRNA4
CHRNA4
Epilepsy, Nocturnal Frontal Lobe, Type 1
A
0.800
CausalMutation
CLINVAR
rs121909580
×
Entrez Id:
1137
Gene Symbol:
CHRNA4
CHRNA4
Epilepsy, Nocturnal Frontal Lobe, Type 4
A
0.700
CausalMutation
CLINVAR
rs2273500
×
Entrez Id:
1137
Gene Symbol:
CHRNA4
CHRNA4
Smoking
C
0.700
GeneticVariation
GWASCAT
Importantly, rs2273500 -C was associated with increased lung cancer risk (N=28 998, odds ratio=1.06 and 95% confidence interval=1.00-1.12), likely through its effect on smoking , as rs2273500 -C was no longer associated with lung cancer after adjustment for smoking .
26440539
2015
rs281865066
×
Entrez Id:
1137
Gene Symbol:
CHRNA4
CHRNA4
Epilepsy, Nocturnal Frontal Lobe, Type 4
A
0.700
CausalMutation
CLINVAR
rs281865067
×
Entrez Id:
1137
Gene Symbol:
CHRNA4
CHRNA4
Epilepsy, Nocturnal Frontal Lobe, Type 3
GAGC
0.700
CausalMutation
CLINVAR
rs28931591
×
Entrez Id:
1137
Gene Symbol:
CHRNA4
CHRNA4
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
A
0.720
CausalMutation
CLINVAR
A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy.
10563623
1999
rs28931591
×
Entrez Id:
1137
Gene Symbol:
CHRNA4
CHRNA4
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
A
0.720
CausalMutation
CLINVAR
A de novo mutation in an Italian sporadic patient affected by nocturnal frontal lobe epilepsy.
22118295
2012
rs28931591
×
Entrez Id:
1137
Gene Symbol:
CHRNA4
CHRNA4
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
A
0.720
CausalMutation
CLINVAR
A de novo mutation in sporadic nocturnal frontal lobe epilepsy.
10939581
2000
rs28931591
×
Entrez Id:
1137
Gene Symbol:
CHRNA4
CHRNA4
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
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
rs28931591
×
Entrez Id:
1137
Gene Symbol:
CHRNA4
CHRNA4
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
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
rs28931591
×
Entrez Id:
1137
Gene Symbol:
CHRNA4
CHRNA4
Epilepsy, Nocturnal Frontal Lobe, Type 1
A
0.700
GeneticVariation
CLINVAR
rs28931591
×
Entrez Id:
1137
Gene Symbol:
CHRNA4
CHRNA4
Epilepsy, Nocturnal Frontal Lobe, Type 1
A
0.700
CausalMutation
CLINVAR
rs28931591
×
Entrez Id:
1137
Gene Symbol:
CHRNA4
CHRNA4
Seizures
A
0.700
CausalMutation
CLINVAR
Electroclinical picture of autosomal dominant nocturnal frontal lobe epilepsy in a Japanese family.
10643924
2000
rs28931591
×
Entrez Id:
1137
Gene Symbol:
CHRNA4
CHRNA4
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
rs28931591
×
Entrez Id:
1137
Gene Symbol:
CHRNA4
CHRNA4
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
rs28931591
×
Entrez Id:
1137
Gene Symbol:
CHRNA4
CHRNA4
Seizures
A
0.700
CausalMutation
CLINVAR
A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy.
10563623
1999
rs28931591
×
Entrez Id:
1137
Gene Symbol:
CHRNA4
CHRNA4
ACTH Deficiency, Isolated
A
0.700
CausalMutation
CLINVAR
rs28931591
×
Entrez Id:
1137
Gene Symbol:
CHRNA4
CHRNA4
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
rs28931591
×
Entrez Id:
1137
Gene Symbol:
CHRNA4
CHRNA4
Seizures
A
0.700
CausalMutation
CLINVAR
A Korean kindred with autosomal dominant nocturnal frontal lobe epilepsy and mental retardation.
14623738
2003
rs28931591
×
Entrez Id:
1137
Gene Symbol:
CHRNA4
CHRNA4
Seizures
A
0.700
CausalMutation
CLINVAR
Autism in siblings with autosomal dominant nocturnal frontal lobe epilepsy.
22883468
2013
rs28931591
×
Entrez Id:
1137
Gene Symbol:
CHRNA4
CHRNA4
Seizures
A
0.700
CausalMutation
CLINVAR
Mutations in familial nocturnal frontal lobe epilepsy might be associated with distinct neurological phenotypes.
22036597
2012
rs28931591
×
Entrez Id:
1137
Gene Symbol:
CHRNA4
CHRNA4
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