注：具体实时内容更新或了解更多癫痫相关基因可访问儿童癫痫长程管理网站进入癫痫相关基因专栏wjdpn.cn/epilepsy/epilepsygene-scn2a查看。如需了解儿童抗癫痫药物用法可点击儿童抗癫痫药物用法（2021年版）。如需了解癫痫综合征分类可点击癫痫综合征分类（2021年版）。SCN2A结构图，参考文献：Brain. 2017 May 1;140(5...
Howell, K.B., et al., SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures.Neurology, 2015. 85(11): p. 958-66. Touma, M., et al., Whole genome sequencing identifies SCN2A mutation in monozygotic twins with Ohtahara syndrome and unique neuropathologic ...
21例SCN2A基因突变的患儿具有多种癫痫表型,其中良性家族性新生儿-婴儿癫痫(benign familial neonatal-infantile epilepsy, BFNIE)3例(14%);良性家族性婴儿癫痫(benign familial infantile epilepsy, BFIE)5例(24%);热性惊厥附加症1例,见于遗传性癫痫伴热性惊厥附加症家系(generalized epilepsies with febrile seizures ...
SCN2A相关的全面性癫痫伴热性惊厥附加症是英文SCN2A-related generalized epilepsy with febrile seizures plus的中文翻译。该病是一种基因病、遗传病。佳学基因通过基因解码找到了导致这一疾病发生的基因。可以通过基因检测阻止SCN2A相关的全面性癫痫伴热性惊厥附加症在后代或者二胎中的出现。根据《人的基因序列变化与人...
21例SCN2A基因突变的患儿具有多种癫痫表型,其中良性家族性新生儿-婴儿癫痫(benign familial neonatal-infantile epilepsy, BFNIE)3例(14%);良性家族性婴儿癫痫(benign familial infantile epilepsy, BFIE)5例(24%);热性惊厥附加症1例,见于遗传性癫痫伴热性惊厥附加症家系(generalized epilepsies with febrile seizures...
11. ZENG Q, YANG Y, DUAN J, et al. SCN2A-Related Epilepsy:The Phenotypic Spectrum, Treatment and Prognosis[J]. Front Mol Neurosci, 2022, 15:809951. 12. WOLFF M, BRUNKLAUS A, ZUBERI S M. Phenotypic spectrum an...
【关键词】 SCN2A 基因；良性家族性新生儿婴儿癫痫；癫痫性脑病。中图分类号：R742.1 文献标识码：A 文章编号：1006-351X（2020）09-0534-06 Clinical analysis of 3 cases with epilepsy caused by SCN2A gene mutation Wu Wenjuan, Tang Hongxia, Li Baoguang, Zhang Jing, Hu Jintong, Li Ai...
关键词 SCN2A 基因,癫痫,遗传 Research Advances in Epilepsy Related to SCN2A Gene Mutation Xiaoying Wang 1,2,3,4,5 , Yue Hu 1,2,3,4,5* 1 Department of Neurology, Children’s Hospital Affiliated to Chongqing Medical University, Chongqing 2 National Clinical Medical Research Center for Child ...
Research Advances in Epilepsy Related to SCN2A Gene Mutation 在线阅读 下载PDF 引用 收藏 分享 摘要 SCN2A (Sodium voltage-gated channel alpha subunit 2)基因编码的神经元电压门控钠通道Nav1.2是中枢神经系统表达的四个钠通道类似物之一,在大脑中分布广泛,参与一系列神经...展开更多 The neuronal voltage-...
Anne T. BergDivision of Neurology Epilepsy CenterAnn & Robert H. Lurie Children’s Hospital of Chicago Chicago IL USA Department of Pediatrics Northwestern Feinberg School of Medicine Chicago IL USAHannah PalacData Solutions REDCap Cloud Encinitas CA USAGreta Wilkening...