Gene symbol: GABRG2. Disease: Generalized epilepsy with febrile seizures plus.
Sun
Huihui
H
Peking University, First Hospital, Pediatrics, Xian Men Street, No, 1, 100034 Beijing, People's Republic of China. sunhuihui010@126.com
Zhang
Yuehua
Y
Liang
Jianmin
J
Liu
Xiaoyan
X
Ma
Xiuwei
X
Wu
Husheng
H
Xu
Keming
K
Qin
Jiong
J
Qi
Yu
Y
Wu
Xiru
X
D019943:Amino Acid Substitution; D018389:Codon, Nonsense; D018388:Codon, Terminator; D004829:Epilepsy, Generalized / Q000235:genetics*; D006801:Humans; D017354:Point Mutation; D011963:Receptors, GABA-A / Q000235:genetics* / Q000502:physiology; D003294:Seizures, Febrile / Q000235:genetics*; D014364:Tryptophan / Q000737:chemistry
D018389:Codon, Nonsense; D018388:Codon, Terminator; C546279:GABRG2 protein, human; D011963:Receptors, GABA-A; D014364:Tryptophan