Gene symbol: SCN1A. 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; D003062:Codon / Q000235:genetics*; D018389:Codon, Nonsense; D004829:Epilepsy, Generalized / Q000235:genetics*; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins / Q000235:genetics*; D017354:Point Mutation; D003294:Seizures, Febrile / Q000235:genetics*; D015222:Sodium Channels / Q000235:genetics*; D014364:Tryptophan / Q000737:chemistry
D003062:Codon; D018389:Codon, Nonsense; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; C568242:SCN1A protein, human; D015222:Sodium Channels; D014364:Tryptophan