Epilepsy, Frontal Lobe
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The siblings also had a variant in CHRNB2, a known epilepsy gene associated with autosomal dominant frontal lobe epilepsy, which they had inherited from the mother.
|
26475232 |
2015 |
Epilepsy, Frontal Lobe
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We assessed the mutation frequency in nicotinic acetylcholine receptor (nAChR) subunits CHRNA4, CHRNB2, and CHRNA2 in a cohort including autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) and sporadic nocturnal frontal lobe epilepsy (NFLE).
|
25770198 |
2015 |
Epilepsy, Frontal Lobe
|
0.400 |
Biomarker
|
disease |
BEFREE |
To the best of our knowledge, this study established for the first time that CHRNB2 is potentially associated with non-familial NFLE patient.
|
21497487 |
2011 |
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 |
LHGDN |
Autosomal dominant nocturnal frontal lobe epilepsy with a mutation in the CHRNB2 gene.
|
17900292 |
2008 |
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 |
GeneticVariation
|
disease |
BEFREE |
Mutations in neuronal nicotinic acetylcholine receptor beta 2 subunit have been associated with autosomal dominant nocturnal frontal lobe epilepsies.
|
15033200 |
2004 |
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 |
Phenotypic comparison of two Scottish families with mutations in different genes causing autosomal dominant nocturnal frontal lobe epilepsy.
|
12681012 |
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 |
Mutational analysis of nicotinic acetylcholine receptor beta2 subunit gene (CHRNB2) in a representative cohort of Italian probands affected by autosomal dominant nocturnal frontal lobe epilepsy.
|
11952766 |
2002 |