Seven novel SCN1A mutations in Chinese patients with severe myoclonic epilepsy of infancy.
Sun
Huihui
H
Zhang
Yuehua
Y
Liang
Jianmin
J
Liu
Xiaoyan
X
Ma
Xiuwei
X
Qin
Jiong
J
Qi
Yu
Y
Wu
Xiru
X
D000293:Adolescent; D044466:Asian People / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002681:China; D004252:DNA Mutational Analysis; D004831:Epilepsies, Myoclonic / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D007223:Infant; D008297:Male; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins / Q000235:genetics*; D015222:Sodium Channels / Q000235:genetics*
D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; C568242:SCN1A protein, human; D015222:Sodium Channels