|
Juvenile Myoclonic Epilepsy
|
0.100 |
PosttranslationalModification
|
disease |
BEFREE |
Our results do not support the previous observation that a high DNA methylation level of the BRD2 promoter CpG76 island is a prevalent epigenetic motif associated with JME in Caucasians.
|
30719712 |
2019 |
|
Juvenile Myoclonic Epilepsy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
BRD2's promoter harbors a JME-associated single nucleotide polymorphism (rs3918149) and a CpG (C-phosphate-G dinucleotides) island (CpG76), making it a potential "hotspot" for JME-associated epigenetic variants.
|
29608786 |
2018 |
|
Juvenile Myoclonic Epilepsy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Of variants investigating in independent data sets, only rs2029461 SNP in GRM4, rs3743123 in CX36 and rs3918149 in BRD2 showed a significant association with JME in at least two different background populations.
|
28636645 |
2017 |
|
Juvenile Myoclonic Epilepsy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Three SNP alleles in BRD2, Cx-36, and ME2 and microdeletions in 15q13.3, 15q11.2, and 16p13.11 also contribute risk to JME.
|
23756480 |
2013 |
|
Juvenile Myoclonic Epilepsy
|
0.100 |
Biomarker
|
disease |
BEFREE |
GABAergic neuron deficit as an idiopathic generalized epilepsy mechanism: the role of BRD2 haploinsufficiency in juvenile myoclonic epilepsy.
|
21887291 |
2011 |
|
Juvenile Myoclonic Epilepsy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
While no difference was observed in the allele and genotype frequencies of BRD2 between JME and controls, an association was found between a TAP-1 haplotype and JME, suggesting that this gene may be another 6p21.3 linked vulnerability factor to JME.
|
19953286 |
2010 |
|
Juvenile Myoclonic Epilepsy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
It has recently been suggested that variation in the BRD2 gene confers increased risk of juvenile myoclonic epilepsy (JME), which accounts for around a quarter of all IGE.
|
17437413 |
2007 |
|
Juvenile Myoclonic Epilepsy
|
0.100 |
Biomarker
|
disease |
BEFREE |
Considering the strong neurobiological association of JME and PPR, the present results support evidence that PPR and JME share epileptogenic pathways, for which BRD2 might be an underlying susceptibility gene.
|
16516380 |
2006 |
|
Juvenile Myoclonic Epilepsy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the EFHC1 gene (unknown function) occur in other rare JME families, and yet in other families, associations are present between JME (or other generalized epilepsies) and single nucleotide polymorphisms in the BRD2 gene (unknown function) and the malic enzyme 2 (ME2) gene.
|
16049035 |
2005 |
|
Juvenile Myoclonic Epilepsy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the EFHC1 gene (unknown function) occur in other rare JME families, and yet in other families, associations are present between JME (or other generalized epilepsies) and single nucleotide polymorphisms in the BRD2 gene (unknown function) and the malic enzyme 2 (ME2) gene.
|
16278970 |
2005 |
|
Juvenile Myoclonic Epilepsy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
DNA sequencing revealed two JME-associated SNP variants in the BRD2 (RING3) promoter region but no other potentially causative coding mutations in 20 probands from families with positive LOD scores.
|
12830434 |
2003 |
|
Juvenile Myoclonic Epilepsy
|
0.100 |
GeneticVariation
|
disease |
LHGDN |
DNA sequencing revealed two JME-associated SNP variants in the BRD2 (RING3) promoter region but no other potentially causative coding mutations in 20 probands from families with positive LOD scores.
|
12830434 |
2003 |