rs74315291
|
|
|
0.730 |
GeneticVariation |
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 |
rs74315291
|
|
|
0.730 |
GeneticVariation |
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 |
rs74315291
|
|
|
0.730 |
GeneticVariation |
BEFREE |
Twenty-four autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) probands were analyzed for the presence of V287L and V287M mutations in the CHRNB2 gene, which have been recently associated with the disease.
|
11952766 |
2002 |
rs74315291
|
|
A |
0.730 |
CausalMutation |
CLINVAR |
|
|
|
rs28931591
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
A de novo mutation in an Italian sporadic patient affected by nocturnal frontal lobe epilepsy.
|
22118295 |
2012 |
rs28931591
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Autosomal dominant nocturnal frontal lobe epilepsy: a genotypic comparative study of Japanese and Korean families carrying the CHRNA4 Ser284Leu mutation.
|
21753767 |
2011 |
rs28931591
|
|
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
|
|
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
|
|
|
0.720 |
GeneticVariation |
BEFREE |
This is the first report of an occurrence of c.851C>T transition in a white family with ADNFLE.
|
12887446 |
2003 |
rs28931591
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
A de novo mutation in sporadic nocturnal frontal lobe epilepsy.
|
10939581 |
2000 |
rs28931591
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy.
|
10563623 |
1999 |
rs104894063
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs121909580
|
|
|
0.030 |
GeneticVariation |
BEFREE |
To examine possible mechanisms underlying this inherited epilepsy, we engineered two ADNFLE mutations (Chrna4(S252F) and Chrna4(+L264)) in mice.
|
17146052 |
2006 |
rs121909580
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Autosomal dominant nocturnal frontal lobe epilepsy in a Spanish family with a Ser252Phe mutation in the CHRNA4 gene.
|
10448807 |
1999 |
rs121909580
|
|
|
0.030 |
GeneticVariation |
BEFREE |
SER252PHE and 776INS3 mutations in the CHRNA4 gene are rare in the Italian ADNFLE population.
|
10450598 |
1999 |
rs568970047
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Exome sequencing identified a novel missense mutation c.464G>A (p.G155D) in Ca<sup>2+</sup>-binding protein 4 (<i>CABP4</i>) in a Chinese pedigree with autosomal dominant nocturnal frontal lobe epilepsy.
|
29108277 |
2017 |
rs281865071
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Autosomal dominant nocturnal frontal lobe epilepsy and mild memory impairment associated with CHRNB2 mutation I312M in the neuronal nicotinic acetylcholine receptor.
|
18534914 |
2008 |
rs772253190
|
|
|
0.010 |
GeneticVariation |
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 |
rs928557634
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Twenty-four autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) probands were analyzed for the presence of V287L and V287M mutations in the CHRNB2 gene, which have been recently associated with the disease.
|
11952766 |
2002 |