|
Idiopathic generalized epilepsy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We also genotyped specific EFHC1 variants in IGE cases and controls from multiple ethnic backgrounds, including 17 African American IGE patients, with 24 matched controls, and 92 Caucasian JME patients with 103 matched controls.
|
25489633 |
2015 |
|
Idiopathic generalized epilepsy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Point mutations in the EFHC1 gene are related to juvenile myoclonic epilepsy, a fairly common idiopathic generalized epilepsy.
|
18593566 |
2008 |
|
Idiopathic generalized epilepsy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutations.
|
17159113 |
2006 |
|
Idiopathic generalized epilepsy
|
0.100 |
Biomarker
|
disease |
BEFREE |
Linkage studies in families of JME probands suggest a susceptibility locus (EJM1) for idiopathic generalized epilepsy (IGE) in the chromosomal region 6p21.3 near the HLA region.
|
14582146 |
2003 |
|
Idiopathic generalized epilepsy
|
0.100 |
Biomarker
|
disease |
BEFREE |
The gene encoding the GABAB receptor (GABABR1) maps close to the HLA-F locus on chromosome 6p21.3 in the same region to which a major susceptibility locus for common subtypes of idiopathic generalized epilepsy (IGE), designated as EJM1, has been localized.
|
10402495 |
1999 |
|
Idiopathic generalized epilepsy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The gene encoding the human GABABR1 receptor (GABABR1) has recently been mapped to human chromosome 6p21.3 by in situ hybridization, a region that harbors a susceptibility locus (EJM1) for idiopathic generalized epilepsy (IGE).
|
9933300 |
1998 |
|
Idiopathic generalized epilepsy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Linkage analysis in separately ascertained families of probands with juvenile myoclonic epilepsy (JME) has previously provided evidence both for and against the existence of a locus (designated "EJM1"), on chromosome 6p, predisposing to a trait defined as either clinical JME, its associated electroencephalographic abnormality, or idiopathic generalized epilepsy.
|
8751867 |
1996 |
|
Idiopathic generalized epilepsy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In particular, recent evidence argues both for and against a chromosome 6p locus (EJM1) for juvenile myoclonic epilepsy, a subtype of IGE.
|
8528209 |
1995 |
|
Idiopathic generalized epilepsy
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
This epilepsy-related gene locus, designated EJM-1, may also influence the expression of other forms of IGE.
|
7746411 |
1995 |
|
Idiopathic generalized epilepsy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A locus, EJM 1, predisposing to idiopathic generalised epilepsy in families of probands with juvenile myoclonic epilepsy has been localised to chromosome 6p by evidence of linkage to the HLA region.
|
8208346 |
1994 |
|
Idiopathic generalized epilepsy
|
0.100 |
Biomarker
|
disease |
BEFREE |
One of the genes for idiopathic generalised epilepsy (IGE), designated EJM1, has been mapped in families with probands with juvenile myoclonic epilepsy, by linkage to the HLA region on chromosome 6.
|
8232778 |
1993 |
|
Idiopathic generalized epilepsy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Evidence for a locus (EJM1) in the HLA region of chromosome 6p predisposing to idiopathic generalized epilepsy (IGE) in the families of patients with juvenile myoclonic epilepsy (JME) has been obtained in two previous studies of separately ascertained groups of kindreds.
|
8352275 |
1993 |