|
Encephalopathies
|
0.200 |
GeneticVariation
|
group |
BEFREE |
However, MECP2 mutations have already been reported in surviving males with severe neonatal-onset encephalopathy, or with X-linked intellectual disability associated with psychosis, pyramidal signs, parkinsonian features and macro-orchidism (PPM-X syndrome; MIM3 #300055).
|
27465203 |
2016 |
|
Encephalopathies
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Phenotype Differentiation of FOXG1 and MECP2 Disorders: A New Method for Characterization of Developmental Encephalopathies.
|
27640358 |
2016 |
|
Encephalopathies
|
0.200 |
Biomarker
|
group |
BEFREE |
The detailed clinical information including clinical manifestation, electroencephalogram (EEG), magnetic resonance imaging (MRI), blood, urine amino acid and organic acid screening of 102 Chinese patients with early-onset epileptic encephalopathies and RTT were collected.
|
24564546 |
2014 |
|
Encephalopathies
|
0.200 |
Biomarker
|
group |
BEFREE |
While the encephalopathy has been traditionally attributed to the MECP2 gene duplication in patients with Lubs syndrome, here we propose that the enteric phenotype in our patient might be due to the dosage variation of the L1CAM protein, together with additional molecular events not identified yet.
|
20860806 |
2010 |
|
Encephalopathies
|
0.200 |
GeneticVariation
|
group |
BEFREE |
We screened the FOXG1 gene in a cohort of 206 MECP2 and CDKL5 mutation negative patients (136 females and 70 males) with severe encephalopathy and microcephaly.
|
19806373 |
2010 |
|
Encephalopathies
|
0.200 |
Biomarker
|
group |
BEFREE |
The Z-RTT HIP group showed a very abnormal EEG (presence of centro-temporal spikes: p=0.004808), although the cases studied were not epileptogenic and did not develop encephalopathy.
|
20153689 |
2010 |
|
Encephalopathies
|
0.200 |
Biomarker
|
group |
BEFREE |
In addition, the frequency of Xq28 duplications including MECP2 has yet to be determined in patients with unexplained X-linked mental retardation and (fe)males with severe encephalopathy.
|
18985075 |
2009 |
|
Encephalopathies
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Although RTT MECP2-mutated patients suffer from a serious and progressive encephalopathy, it is "epileptogenic" but not "DREgenic" as they have a decreased risk (16%) for DRE compared to the general epileptic population (DRE: 20-40%).
|
18842453 |
2008 |
|
Encephalopathies
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Non-mosaic males with a 46,XY karyotype and a MECP2 null mutation display a phenotype of severe neonatal-onset encephalopathy that is distinctly different from Rett syndrome (RTT).
|
18477000 |
2008 |
|
Encephalopathies
|
0.200 |
GeneticVariation
|
group |
BEFREE |
The phenotypes show a strong resemblance, and might in fact represent a clinical-genetic entity of the T158M mutation within the complex of congenital encephalopathies in males with MeCP2 mutations.
|
17236109 |
2006 |
|
Encephalopathies
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Mutations in the MECP2 (Methyl-CpG-binding protein) gene have been reported to cause Rett syndrome (RTT), an X-linked progressive encephalopathy.
|
16473305 |
2006 |
|
Encephalopathies
|
0.200 |
GeneticVariation
|
group |
BEFREE |
MECP2 mutations should be assessed in boys with progressive encephalopathy and one or more of respiratory insufficiency, abnormal movements or tone, and intractable seizures.
|
16832102 |
2006 |
|
Encephalopathies
|
0.200 |
GeneticVariation
|
group |
BEFREE |
About 80% of female patients with Rett syndrome (RTT) display a mutation in the methyl-CpG-binding protein 2 (MECP2) gene, but most males with MECP2 mutation experience severe fatal encephalopathy or non-specific X-linked mental retardation (XLMR).
|
16122633 |
2005 |
|
Encephalopathies
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Early-onset encephalopathy and cortical myoclonus in a boy with MECP2 gene mutation.
|
15557528 |
2004 |
|
Encephalopathies
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Male germline MECP2 mutations cause either severe encephalopathy with death at birth (usually in brothers of classical RTT females) or X-linked recessive mental retardation (XLMR).
|
12750821 |
2003 |
|
Encephalopathies
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Sporadic case of fatal encephalopathy with neonatal onset associated with a T158M missense mutation in MECP2.
|
12719401 |
2003 |
|
Encephalopathies
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Molecular analysis has allowed the phenotype of MECP2 mutations to be broadened beyond RTT to include girls who have mild mental retardation, autism, and an Angelman syndrome phenotype, as well as males with severe encephalopathy.
|
12210319 |
2002 |
|
Encephalopathies
|
0.200 |
GeneticVariation
|
group |
BEFREE |
This case, as well as other published studies of males with MECP2 mutations, reveals that the clinical manifestations in viable males vary from neonates with severe encephalopathy to adults with mental retardation and demonstrate genotype-phenotype correlations.
|
11913564 |
2002 |
|
Encephalopathies
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Mutations in the MECP2 (Methyl-CpG-binding protein) gene recently have been reported to cause Rett syndrome (RTT), an X-linked progressive encephalopathy.
|
12180070 |
2002 |
|
Encephalopathies
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Indeed, the clinical phenotypes for MECP2 mutations range from mild disability in the mother of a girl with RS to rapidly progressive encephalopathy in her brother.
|
11738873 |
2001 |
|
Encephalopathies
|
0.200 |
GeneticVariation
|
group |
BEFREE |
This study shows that MECP2 mutations can account for a broad spectrum of clinical presentations and raises the difficult issue of the screening of the MECP2 gene in severe encephalopathy in both males and females.
|
11238684 |
2001 |
|
Encephalopathies
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Recent data indicate that the clinical phenotypes for MECP2 mutations range from mild disability in the mother of a girl with RS to rapidly progressive encephalopathy in her brother.
|
11106281 |
2000 |
|
Encephalopathies
|
0.200 |
Biomarker
|
group |
HPO |
|
|
|