早发癫痫性脑病遗传学病因研究进展
李营 - 临床儿科杂志, 2017 - jcp.xinhuamed.com.cn
… excitability and synaptic transmission in a cohort of children with non-syndromic infantile
epileptic encephalopathy [J]. … Early onset epileptic encephalopathy caused by de novo SCN8A …
epileptic encephalopathy [J]. … Early onset epileptic encephalopathy caused by de novo SCN8A …
[PDF][PDF] GABAB 受体基因突变和神经疾病研究进展
刘磊， 许婵娟， 范治然， 侯国飞… - Progress in Modern …, 2019 - biomed.cnjournals.com
… -RES Consortium, Epilepsy Phenome Genome Project, Epi4K Consortium. De novo mutations
in synaptic transmission genes including DNM1 cause epileptic encephalopathies [J]. Am …
in synaptic transmission genes including DNM1 cause epileptic encephalopathies [J]. Am …
CHD2 基因变异相关癫痫临床特点分析
冯帆， 陈芳， 孙素真， 李鑫， 刘学芳， 赵彤 - 临床儿科杂志, 2023 - jcp.xinhuamed.com.cn
… the clinical features of epilepsy in children with CHD 2 gene variation. … Epilepsy
Phenome/Genome Project;et al, De Novo Mutations in Synaptic Transmission Genes Including …
Phenome/Genome Project;et al, De Novo Mutations in Synaptic Transmission Genes Including …
[PDF][PDF] 减药对儿童癫痫术前评估长程脑电图监测的影响
王文， 王爽， 于国静， 刘通， 刘晓燕， 蔡立新 - Journal of Epilepsy, 2021 - caae.org.cn
… encephalopathy caused by DNM1 gene pathogenic variations. Methods … with de novo
variants in DNM1 gene were analyzed retrospectively. Through using “Dynamin-1” or “DNM1” as …
variants in DNM1 gene were analyzed retrospectively. Through using “Dynamin-1” or “DNM1” as …