IDH1, isocitrate dehydrogenase (NADP(+)) 1, 3417

N. diseases: 399; N. variants: 10
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.070 GeneticVariation disease BEFREE In a multivariate analysis, high xCT expression and WHO tumor grade but not IDH1 R132H mutation, were significantly associated with epileptic seizures at diagnosis (odds ratio 2.2, p = 0.02). 29404978 2018
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.070 GeneticVariation disease BEFREE Proneural subtype, isocitrate dehydrogenase 1 (IDH1) mutations, and epileptic seizures are closely associated suggesting that aberrant neuronal differentiation contributes to glioma-associated seizures. 30297697 2018
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.070 GeneticVariation disease BEFREE These findings support further research into IDH mutations, and the potential for an antiepileptic therapeutic effect of their inhibitors, in patients with glioma-associated epilepsy. 29172136 2018
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.070 GeneticVariation disease BEFREE Epilepsy as presenting sign is associated with a longer survival in low- and high- grade gliomas, particularly with the IDH1 mutation. 29076421 2017
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.070 GeneticVariation disease BEFREE We found bilaterally that the frontal lobe containing regions were associated with GAS for low grades gliomas, moreover lesions with the PTEN mutation and IDH1 mutation and seizure susceptible regions were located close together and partially overlapped, Patients with preoperative tumor involving the right frontal lobe may have good seizure control; however, for the glioma-infiltrated regions in front of the precentral regions in the left hemisphere, the epilepsy prognosis is poor. 28497669 2017
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.070 GeneticVariation disease BEFREE The results of the IDH mutation examinations were used to analyze the relationship between mutations and glioma-related epilepsy. 27406953 2016
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.070 GeneticVariation disease BEFREE Molecular genetic abnormalities identified in 17 cases were IDH1 mutation (n = 3), 1p/19q loss (n = 10), isolated loss 9q (n = 2), and PTEN loss (n = 3), which were not associated with tumor type or location, higher cell proliferation, or distinguishing clinical features (mean age of epilepsy onset, 9 years; age at surgery = 31 years; 69% free from seizure); none had progression on magnetic resonance imaging (mean follow-up, 6 years). 21937911 2011