TY  - GEN
AU  - Kudin,Alexei P
AU  - Baron,Gregor
AU  - Zsurka,Gábor
AU  - Hampel,Kevin G
AU  - Elger,Christian E
AU  - Grote,Alexander
AU  - Weber,Yvonne
AU  - Lerche,Holger
AU  - Thiele,Holger
AU  - Nürnberg,Peter
AU  - Schulz,Herbert
AU  - Ruppert,Ann-Kathrin
AU  - Sander,Thomas
AU  - Cheng,Qing
AU  - Arnér,Elias Sj
AU  - Schomburg,Lutz
AU  - Seeher,Sandra
AU  - Fradejas-Villar,Noelia
AU  - Schweizer,Ulrich
AU  - Kunz,Wolfram S
TI  - Homozygous mutation in TXNRD1 is associated with genetic generalized epilepsy
SN  - 1873-4596
PY  - 2017///1215
KW  - Adolescent
KW  - Adult
KW  - Child
KW  - Child, Preschool
KW  - Epilepsy, Generalized
KW  - genetics
KW  - Female
KW  - Genetic Predisposition to Disease
KW  - Glutathione
KW  - metabolism
KW  - Homozygote
KW  - Humans
KW  - Male
KW  - Muscle, Skeletal
KW  - Mutation
KW  - Oxidative Stress
KW  - Reactive Oxygen Species
KW  - Thioredoxin Reductase 1
KW  - Exome Sequencing
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.freeradbiomed.2017.02.040
ER  -