Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9900
Gene Symbol: SV2A
SV2A
0.100 AlteredExpression disease BEFREE The purpose of our research is to better understand the possible role(s) of this protein through the phenotype of cKO (Grik4 Cre+/-, SV2A lox/lox) mice, male and female, which present a specific decrease of SV2A expression levels in the hippocampal glutamatergic neurons but without any epileptic seizures. 31166988 2019
Entrez Id: 9900
Gene Symbol: SV2A
SV2A
0.100 Biomarker disease BEFREE The SV2A isoform is the most studied and its implication in epilepsy therapy led to the development of the first SV2A PET radiotracer [<sup>18</sup>F]UCB-H. 31052478 2019
Entrez Id: 9900
Gene Symbol: SV2A
SV2A
0.100 Biomarker disease BEFREE Synaptic vesicle protein 2A (SV2A), which plays an important role in the pathophysiology of epilepsy, is a unique vesicular protein recognized as a pharmacological target of anticonvulsant drugs. 31520710 2019
Entrez Id: 9900
Gene Symbol: SV2A
SV2A
0.100 GeneticVariation disease BEFREE We now report a novel heterozygous pathogenic SV2A gene mutation both in a girl and her mother result in epilepsy and poor response to LEV. 31005049 2019
Entrez Id: 9900
Gene Symbol: SV2A
SV2A
0.100 AlteredExpression disease BEFREE Changes in SV2A expression have been linked to several diseases that could implicate an imbalance between excitation and inhibition, such as epilepsy. 30905653 2019
Entrez Id: 9900
Gene Symbol: SV2A
SV2A
0.100 Biomarker disease BEFREE Furthermore, these SV2A modifications may depend on specific changes in the nerve tissue following the induction of epilepsy and might be present in both excitatory and inhibitory terminals. 30336420 2018
Entrez Id: 9900
Gene Symbol: SV2A
SV2A
0.100 Biomarker disease BEFREE In addition, a recent clinical study demonstrated that a missense mutation in the SV2A gene caused intractable epilepsy with involuntary movements and developmental retardation, illustrating a causative role of SV2A dysfunction in epilepsy. 28393712 2017
Entrez Id: 9900
Gene Symbol: SV2A
SV2A
0.100 GeneticVariation disease BEFREE Our report provides the elusive evidence that an SV2A mutation can be a cause of epilepsy in humans. 26002053 2015
Entrez Id: 9900
Gene Symbol: SV2A
SV2A
0.100 AlteredExpression disease BEFREE To correlate SV2A expression in surgically removed tumor and peritumoral tissue of glioma patients with epilepsy with the clinical response to levetiracetam in a prospective cohort. 21795655 2011
Entrez Id: 9900
Gene Symbol: SV2A
SV2A
0.100 GeneticVariation disease BEFREE None of the polymorphisms tested in SV2A, SV2B or SV2C influence LEV response or predisposition to epilepsy. 18977120 2009
Entrez Id: 9900
Gene Symbol: SV2A
SV2A
0.100 Biomarker disease BEFREE Finally, there is a strong correlation between the affinity of a compound for SV2A and its ability to protect against seizures in an audiogenic mouse animal model of epilepsy. 15210974 2004