Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) can be caused by mutations in the neuronal nicotinic acetylcholine receptor (nAChR) subunit genes CHRNA4 and CHRNB2.
|
19383498 |
2009 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant nocturnal frontal lobe epilepsy and mild memory impairment associated with CHRNB2 mutation I312M in the neuronal nicotinic acetylcholine receptor.
|
18534914 |
2008 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutation analysis of the CHRNB2 gene revealed a c.859G>A transition (Val287Met) within the second transmembrane domain, identical to that previously described in a Scottish ADNFLE family.
|
17900292 |
2008 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
|
0.500 |
GermlineCausalMutation
|
disease |
ORPHANET |
The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy.
|
11062464 |
2000 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In order to assess the genetic defects in NFLE, we performed a mutation screening in 33 unrelated patients with sporadic NFLE by amplifying and sequencing bidirectionally TM 1-3 of CHRNA4, CHRNB2 and CHRNA2 which contain the mutations reported in ADNFLE.
|
19058950 |
2009 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
To investigate this issue of phenotypic heterogeneity, we prospectively carried out a high-resolution 3-T magnetic resonance imaging (MRI) study in an ADNFLE family containing 10 affected members including one pharmacoresistant patient and carrying the V287L mutation of the CHRN beta2 subunit (CHRNB2).
|
22897520 |
2013 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
ADNFLE has been associated with mutations in two genes coding for the nicotinic acetylcholine receptor (CHRNA4 and CHRNB2).
|
12782965 |
2003 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is known to be caused by mutations in the transmembrane regions of the neuronal nicotinic acetylcholine receptor (nAChR) genes CHRNA4 and CHRNB2.
|
17602836 |
2007 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A case of autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) coexisting with pervasive developmental disorder harboring SCN1A mutation in addition to CHRNB2 mutation.
|
23032131 |
2012 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a rare familial seizure disorder caused by mutations in at least two different subunit genes of the neuronal nicotinic acetylcholine receptor (nAChR), CHRNA4 and CHRNB2.
|
22036597 |
2012 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
However, ADNFLE is genetically heterogeneous and mutations in CHRNA4 and CHRNB2 account for only a minority of ADNFLE cases.
|
12195439 |
2002 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is partly caused by mutations in the nicotinic acetylcholine receptor (nAChR) genes CHRNA4, CHRNB2, and CHRNA2.
|
21497487 |
2011 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
|
0.500 |
Biomarker
|
disease |
BEFREE |
Although over hundred families are on record, only a minority of them have been linked to mutations in the genes coding for the alpha4, alpha2 and beta2 (CHRNA4, CHRNA2, and CHRNB2) subunits of the nAChRs, indicating that ADNFLE is genetically heterogeneous despite a relatively homogeneous clinical picture.
|
17662253 |
2007 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
|
0.500 |
Biomarker
|
disease |
BEFREE |
Certain mutations in specific parts of the neuronal nicotinic acetylcholine receptor (nAChR) subunit genes CHRNA4, CHRNB2, and probably CHRNA2, can cause autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE).
|
18456869 |
2008 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
These data, obtained in the largest ADNFLE cohort so far analyzed, demonstrate the rarity of the identified CHRNB2 mutations in ADNFLE patients.
|
11952766 |
2002 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations responsible for autosomal dominant nocturnal frontal lobe epilepsy have been identified in two members of the neuronal nicotinic acetylcholine receptor gene family: CHRNA4(ENFL1 locus) and CHRNB2 (ENFL3 locus) coding for alpha4 and beta2 subunit, respectively.
|
15245761 |
2004 |
Bulbocavernosus Reflex, Decreased
|
0.300 |
Therapeutic
|
phenotype |
CTD_human |
The β2 nicotinic acetylcholine receptor subunit differentially influences ethanol behavioral effects in the mouse.
|
23419392 |
2013 |
Bulbocavernousus Reflex Absent
|
0.300 |
Therapeutic
|
phenotype |
CTD_human |
The β2 nicotinic acetylcholine receptor subunit differentially influences ethanol behavioral effects in the mouse.
|
23419392 |
2013 |
Classical Lissencephaly
|
0.010 |
Biomarker
|
disease |
BEFREE |
Specifically, downregulation of the nicotinic cholinergic receptor subunit β-2 gene (CHRNB2), monoaminergic enzymes catechol-O-methyltransferase (COMT) and dopa decarboxylase (DDC), chloride channels CLCN4 and CLCN5, scaffolding protein caveolin 1 (CAV1), cortical development/cytoskeleton element lissencephaly 1 (LIS1), and intracellular signaling cascade member adenylate cyclase 3 (ADCY3) was observed in pS422-immunreactive nbM neurons in CTE patients.
|
29338612 |
2018 |
Dementia
|
0.010 |
Biomarker
|
disease |
LHGDN |
Thalamic nicotinic receptors implicated in disturbed consciousness in dementia with Lewy bodies.
|
16023355 |
2006 |
Depressed mood
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
Since both nicotine dependence (ND) and depressive phenotype are complex disorders, we investigated the effects of a significant early life experience, maternal bonding style (MB) and CHRNB2 gene SNPs on smoking-related depression.
|
25640319 |
2015 |
Depressive disorder
|
0.010 |
Biomarker
|
disease |
BEFREE |
Since both nicotine dependence (ND) and depressive phenotype are complex disorders, we investigated the effects of a significant early life experience, maternal bonding style (MB) and CHRNB2 gene SNPs on smoking-related depression.
|
25640319 |
2015 |
Dizziness
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
Individuals with the minor allele of CHRNB2 variants experienced less nausea than did those without the minor allele, consistent with previously reported findings for CHRNB2 and the occurrence of nausea and dizziness as a consequence of first smoking attempt in adolescents, and with the known neurophysiology of nausea.
|
21606948 |
2012 |
Down Syndrome
|
0.010 |
AlteredExpression
|
disease |
LHGDN |
Changes in nicotinic acetylcholine receptor subunits expression in brain of patients with Down syndrome and Alzheimer's disease.
|
11771745 |
2001 |