Homozygous mutation in TXNRD1 is associated with genetic generalized epilepsy. [electronic resource]
Producer: 20171215Description: 270-277 p. digitalISSN:- 1873-4596
- Adolescent
- Adult
- Child
- Child, Preschool
- Epilepsy, Generalized -- genetics
- Female
- Genetic Predisposition to Disease
- Glutathione -- metabolism
- Homozygote
- Humans
- Male
- Muscle, Skeletal -- metabolism
- Mutation
- Oxidative Stress -- genetics
- Reactive Oxygen Species -- metabolism
- Thioredoxin Reductase 1 -- genetics
- Exome Sequencing
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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