E., Licchetta, L., Oliver, K. L., Mazarib, A., Afawi, Z., Korczyn, A., Plazzi, G., & Dibbens, L. M. (2012). Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal do...
英国伦敦大学学院Mala Shah研究团队共同在药理学高影响力期刊British Journal of Pharmacology杂志在线发表题为“Carvedilol inhibits neuronal hyperexcitability caused by epilepsy-associated KCNT1 mutations” 的研究论文,该研究发现常用于治疗高...
M. (2012). Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy. Nature Genetics, 44(11), 1188–1190. [4] Milligan, C. J., Li, M., Gazina, E. V., Heron, S. E., Nair, U., Trager, C., Reid, C. ...
Impaired motor skill learning and altered seizure susceptibility in mice with loss or gain of function of the Kcnt1 gene encoding Slack (KNa1. 1) Na(+)-activated K(+) channels. Sci Rep, 2020, 10(1): 3213. 5. Hite RK, Yuan P, Li Z, et al. Cryo-electron microscopy structure of...
【关键词】 婴儿癫痫伴游走性局灶性发作；KCNT1基因突变；药物难治性癫痫 中图分类号：R742.1 文献标识码：A 文章编号：1006-351X（2019）11-0727-05 A case report of epilepsy in infancy with migrating focal seizure caused by mutation of KCNT1 gene Liu Kang ，Sun Suzhen ，Chen Fang....
癫痫伴游走性局灶性发作;KCNT1;基因突变ClinicalanalysisofEIMFSwithKCNT1genemutation KANG Qing-yun,LIAOHong-mei,YANGSai,HUWen-jing,WANGMiao,YANGLi-ming ∗ (DepartmentofNeurology,HunanChildren′sHospital,Changsha410007,China) [Abstract] Objective TosummarizetheclinicalcharacteristicsofEIMFSwithKCNT1gene...
KCNT1基因相关癫痫研究进展 Research progress in KCNT1gene-related epilepsy 张欣，李光健，林卫红 （吉林大学第一医院神经内科，吉林长春130021）［摘要］离子通道在调节中枢神经系统兴奋性方面起重要作用。离子通道基因突变与很多原发性癫痫的发病有密切关联，最常见的是婴儿恶性迁移部分性发作癫痫和常染色体显性遗传夜间...
protein-coding gene 同源简称(alias symbol) KCa4.1|KIAA1422|SLACK|Slo2.2 基因家族代码(gene_family_id) 856[HGNC][GenScript] omim代码 608167 entrez码 57582[Vega] ensembl基因码 ENSG00000107147[Ensembl] 基因家族(gene family) Potassium channels, sodium activated subfamily T ...
Methods Retrospectively analyze the clinical data of 4 cases of EIMFS with KCNT1 gene mutation receiving treatment in the Department of Neurology of Hunan Children's Hospital from August 2018 to May 2020, and their clinical manifestations, cranial imaging, EEG characteristics...
There is a parallel naming system for the genes that encode the various Na+ channel α subunits, although the gene number is not always the same as the isoform number (see Table 2). Consistent with their common evolutionary origins, several Na+ channel α subunit genes are proximally located...