|
Epilepsy, Frontal Lobe
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation of the nicotinic acetylcholine receptor gene CHRNA4 in a Chinese patient with non-familial nocturnal frontal lobe epilepsy.
|
25282705 |
2014 |
|
Epilepsy, Frontal Lobe
|
0.400 |
Biomarker
|
disease |
BEFREE |
Forty-six nocturnal frontal lobe epilepsy (NFLE) patients (in which the involvement of the CHRNA4 and CHRNB2 genes coding for neuronal nicotinic acetylcholine receptor (nAChRs) subunits associated to the disease were previously excluded) were analyzed for the presence of mutations in the CHRNA2 gene coding for the alpha2 subunit of the same receptor, which has been recently associated with the disease.
|
18226955 |
2009 |
|
Epilepsy, Frontal Lobe
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation of the nicotinic acetylcholine receptor gene CHRNA4 in sporadic nocturnal frontal lobe epilepsy.
|
19058950 |
2009 |
|
Epilepsy, Frontal Lobe
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in neuronal nAChRs are found in a rare form of familial nocturnal frontal lobe epilepsy (ADNFLE), while mutations in the neuromuscular subtype of the nAChR are responsible for either congenital myasthenia syndromes (adult subtype of neuromuscular nAChR) or a form of arthrogryposis multiplex congenita type Escobar (fetal subtype of neuromuscular nAChR).
|
17434185 |
2007 |
|
Epilepsy, Frontal Lobe
|
0.400 |
Biomarker
|
disease |
CTD_human |
Nicotine-induced dystonic arousal complex in a mouse line harboring a human autosomal-dominant nocturnal frontal lobe epilepsy mutation.
|
17881519 |
2007 |
|
Epilepsy, Frontal Lobe
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in CHRNA4 and CHRNB2 are associated with some cases of familial epilepsies classified as autosomal-dominant nocturnal frontal lobe epilepsies.
|
17385675 |
2007 |
|
Epilepsy, Frontal Lobe
|
0.400 |
Biomarker
|
disease |
CTD_human |
Mice lacking neuronal nicotinic acetylcholine receptor beta4-subunit and mice lacking both alpha5- and beta4-subunits are highly resistant to nicotine-induced seizures.
|
14996991 |
2004 |
|
Epilepsy, Frontal Lobe
|
0.400 |
GeneticVariation
|
disease |
LHGDN |
Evidence for S284L mutation of the CHRNA4 in a white family with autosomal dominant nocturnal frontal lobe epilepsy.
|
12887446 |
2003 |
|
Epilepsy, Frontal Lobe
|
0.400 |
Biomarker
|
disease |
CTD_human |
A new Chrna4 mutation with low penetrance in nocturnal frontal lobe epilepsy.
|
12823585 |
2003 |
|
Epilepsy, Frontal Lobe
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A new Chrna4 mutation with low penetrance in nocturnal frontal lobe epilepsy.
|
12823585 |
2003 |
|
Epilepsy, Frontal Lobe
|
0.400 |
GeneticVariation
|
disease |
LHGDN |
[Molecular and genetic basis of idiopathic nocturnal frontal lobe epilepsy].
|
12185808 |
2002 |
|
Epilepsy, Frontal Lobe
|
0.400 |
GeneticVariation
|
disease |
LHGDN |
How mutations in the nAChRs can cause ADNFLE epilepsy.
|
12121305 |
2002 |
|
Epilepsy, Frontal Lobe
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Independent occurrence of the CHRNA4 Ser248Phe mutation in a Norwegian family with nocturnal frontal lobe epilepsy.
|
10802757 |
2000 |
|
Epilepsy, Frontal Lobe
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A pattern is emerging of site-specific mutation within the second transmembrane domain of CHRNA4 in association with autosomal dominant nocturnal frontal lobe epilepsy and sporadic nocturnal frontal lobe epilepsy in families with different ethnic backgrounds.
|
10939581 |
2000 |
|
Epilepsy, Frontal Lobe
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In one large Australian kindred, a missense mutation in the second transmembrane domain of the neuronal nicotinic acetylcholine receptor alpha 4 subunit (CHRNA4) gene, located on chromosome 20 q13.2-13.3, has been reported to be associated with nocturnal frontal lobe epilepsy.
|
9549500 |
1998 |