|
Seizures
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Altered glutamate clearance in ascorbate deficient mice increases seizure susceptibility and contributes to cognitive impairment in APP/PSEN1 mice.
|
30172223 |
2018 |
|
Seizures
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
We thus evaluated seizure susceptibility and hippocampal network hyperexcitability at ~3 weeks of age [prior to amyloid beta (Aβ) plaque deposition, neurofibrillary pathology, and cognitive impairment] in a triple transgenic mouse model of familial AD (3xTg-AD mouse) that harbors mutated human Aβ precursor protein (APP), tau and presenilin 1 (PS1) genes.
|
28392767 |
2017 |
|
Seizures
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
We found that patients with presenilin 1 (PSEN1) mutations had the earliest age of onset (AOO; 43.3 ± 8.6 years, p < 0.001) and were more commonly affected by seizures, spastic paraparesis, myoclonus, and cerebellar signs (p < 0.001, p < 0.001, p = 0.003, and p = 0.002, respectively).
|
26337232 |
2016 |
|
Seizures
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Among all PSEN1 mutations, those within the domains of protein hydrophilic I, transmembrane II (TM-II), TM-III, TM-IV, and TM-VII were associated with a significant increase in seizure frequency compared to other domains (HR = 4.53 [1.93-10.65], p = 0.0005).
|
27466472 |
2016 |
|
Seizures
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
Myoclonus and seizures were the most common additional neurological features; individuals with myoclonus (40 [47%] with PSEN1 mutations and 12 [33%] with APP mutations) were significantly more likely to develop seizures (p=0·001 for PSEN1; p=0·036 for APP), which affected around a quarter of the patients in each group (20 [24%] and nine [25%], respectively).
|
27777022 |
2016 |
|
Seizures
|
0.200 |
AlteredExpression
|
phenotype |
BEFREE |
The purpose of this study was to test whether mice that have diminished brain ascorbic acid in addition to carrying human Alzheimer's disease mutations in the amyloid precursor protein (APP) and presenilin 1 (PSEN1) genes, had altered electrical activity in the brain (electroencephalography; EEG), and were more susceptible to pharmacologically induced seizures.
|
25616451 |
2015 |
|
Seizures
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
This is the first report of PSEN1 mutation (Gly206Asp) with features of seizure and a rapid progressive cognitive decline in a pathologically confirmed case of FAD.
|
21335660 |
2011 |
|
Seizures
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Seizure prevalence increases with disease duration, but early-onset disease is associated with a greater risk of seizures, in part related to the frequency of presenilin-1 gene mutations in early-onset disease.
|
19557550 |
2010 |
|
Seizures
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
The objective is to describe clinical and neuropathologic features of a family with a PSEN1 mutation that has been reported previously, without autopsy confirmation, in a single Greek family whose affected members presented with memory loss in their 30s, as well as variable limb spasticity and seizures.
|
18580586 |
2008 |
|
Seizures
|
0.200 |
GeneticVariation
|
phenotype |
LHGDN |
A family with EOAD, seizures and CWP was investigated by neuropathological study and DNA sequencing of the PSEN1 gene.
|
17645236 |
2007 |
|
Seizures
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
This study aimed to determine the neuronal loss in CA1 hippocampal region from patients bearing the presenilin-1 [E280A] mutation (PS1[E280A]) associated with seizures.
|
15230697 |
2004 |
|
Seizures
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Ectopic white matter neurons, a developmental abnormality that may be caused by the PSEN1 S169L mutation in a case of familial AD with myoclonus and seizures.
|
11764087 |
2001 |
|
Seizures
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
The disease presented as a progressive cognitive decline, myoclonus and seizures developing later in the disease, a feature common to PSEN-1-linked Alzheimer's disease.
|
11099448 |
2000 |
|
Seizures
|
0.200 |
Biomarker
|
phenotype |
HPO |
|
|
|