TXNRD1, thioredoxin reductase 1, 7296

N. diseases: 136; N. variants: 21
Disease: Epilepsy, Generalized ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014548
Disease: Epilepsy, Generalized
Epilepsy, Generalized 		0.020 GeneticVariation disease BEFREE Genetic generalized epilepsy was associated with mutations in TXNRD1 gene. 29709707 2018
CUI: C0014548
Disease: Epilepsy, Generalized
Epilepsy, Generalized 		0.020 GeneticVariation disease BEFREE Here, we report a homozygous mutation in TXNRD1 (thioredoxin reductase 1) in a family with genetic generalized epilepsy. 28232204 2017