APP, amyloid beta precursor protein, 351

N. diseases: 485; N. variants: 114
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036572
Disease: Seizures
Seizures
0.500 Biomarker phenotype BEFREE Further, we could demonstrate that a high number of giant spikes in APP/PS1 mice predicts seizures. 31781019 2019
CUI: C0036572
Disease: Seizures
Seizures
0.500 GeneticVariation phenotype BEFREE We suggest that the clinical presentation in DS (prominent memory decline and behavioral symptoms, and early development of myoclonus and seizures) are similar to the clinical features associated with APP mutations that is known to have an increased Aβ42/ Aβ40 ratio, and highlight the relative lack of vascular complications associated with cerebral amyloid angiopathy in DS in comparison with those rare individuals with FAD due to duplication APP. 28870521 2018
CUI: C0036572
Disease: Seizures
Seizures
0.500 GeneticVariation phenotype BEFREE Altered glutamate clearance in ascorbate deficient mice increases seizure susceptibility and contributes to cognitive impairment in APP/PSEN1 mice. 30172223 2018
CUI: C0036572
Disease: Seizures
Seizures
0.500 Biomarker phenotype BEFREE Navβ2 knockdown improves cognition in APP/PS1 mice by partially inhibiting seizures and APP amyloid processing. 29245901 2017
CUI: C0036572
Disease: Seizures
Seizures
0.500 Biomarker phenotype BEFREE Also, APP/PS1 mice showed a lower latency to evoke seizure events than in the control animals when pentylenetetrazole (60mg/kg; i.p.) was injected. 28963050 2017
CUI: C0036572
Disease: Seizures
Seizures
0.500 GeneticVariation 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
CUI: C0036572
Disease: Seizures
Seizures
0.500 GeneticVariation phenotype BEFREE Several Alzheimer model mice carrying transgenic amyloid precursor protein (APP) with the Swedish mutation have been reported to exhibit spontaneous seizures and/or increased epileptiform EEG activity. 26825094 2016
CUI: C0036572
Disease: Seizures
Seizures
0.500 Biomarker phenotype BEFREE APP duplication carriers showed a significantly increased seizure risk compared to both APP MCs (hazard ratio [HR] = 5.55 [95% confidence interval 1.87-16.44]) and PSEN1 MCs (HR = 4.46 [2.11-9.44]). 27466472 2016
CUI: C0036572
Disease: Seizures
Seizures
0.500 GeneticVariation 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
CUI: C0036572
Disease: Seizures
Seizures
0.500 AlteredExpression phenotype BEFREE The amyloid-β (Aβ) peptide has been identified as a possible link between AD and seizures, and while Aβ is known to affect neuronal activity, the full-length amyloid precursor protein (APP) and other APP cleavage products may be important for the development and maintenance of cortical network hyperexcitability. 25484360 2015
CUI: C0036572
Disease: Seizures
Seizures
0.500 GeneticVariation phenotype BEFREE In addition, myoclonic jumping has been described in APP mutants, together with seizure activity, abnormal limb-flexion and paw-clasping reflexes, and motor coordination deficits. 23089603 2012
CUI: C0036572
Disease: Seizures
Seizures
0.500 Biomarker phenotype BEFREE Here we demonstrate that transgenic mice overexpressing APP intracellular domain (AICD) and its binding partner Fe65 exhibit abnormal spiking events and a susceptibility to induced seizures. 19828212 2011
CUI: C0036572
Disease: Seizures
Seizures
0.500 Biomarker phenotype GENOMICS_ENGLAND Iowa variant of familial Alzheimer's disease: accumulation of posttranslationally modified AbetaD23N in parenchymal and cerebrovascular amyloid deposits. 20228223 2010
CUI: C0036572
Disease: Seizures
Seizures
0.500 AlteredExpression phenotype BEFREE Herein, we assess (1) human APP(Swe) and Abeta levels as a function of age in FRAXAD mice, and (2) seizure susceptibility to pentylenetetrazol (PTZ) after mGluR(5) blockade. 19918329 2009
CUI: C0036572
Disease: Seizures
Seizures
0.500 Biomarker phenotype HPO