NES, nestin, 10763

N. diseases: 302; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036572
Disease: Seizures
Seizures
0.040 AlteredExpression phenotype BEFREE Similarly, inactivation of LGI1 in cells expressing Nestin, expressed primarily in neuronal precursor cells, led to early onset seizures and cortical dysplasia. 30489685 2019
CUI: C0036572
Disease: Seizures
Seizures
0.040 GeneticVariation phenotype BEFREE Neural activation of the p.Arg1872Trp mutation by Nestin-Cre also resulted in early onset seizures and death. 30601941 2019
CUI: C0036572
Disease: Seizures
Seizures
0.040 AlteredExpression phenotype BEFREE Nestin is expressed in immature neuroepithelial and progenitor cell types and transiently upregulated in proliferative neuroglial cells responding to acute brain injury, including following seizures. 28925561 2018
CUI: C0036572
Disease: Seizures
Seizures
0.040 Biomarker phenotype BEFREE Despite the fact that clinical characteristics of frontal lobe seizures have been recently described better, differentiating seizures of frontal lobe origin from NES on clinical grounds alone is difficult. 16122571 2005