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...
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...
While KCNT1 mutation in itself could account for the increased excitability and seizure phenotype, the severity of the developmental delay in children with EIMFS suggests an independent developmental role for this gene. In addition to regulating ion flux, a number of channels have nonconducting funct...
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...
MRI, blood and urine metabolic screening were normal. The results of gene sequencing: The child had mutation in KCNT1 gene ,a heterozygous missense （c.1283G ＞A, p.Arg428Gln） and de novo （no mutation in his parents） mutation. Conclusion KCNT1 is a major disease-related gene in ...
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 TosummarizetheclinicalcharacteristicsofEIMFSwithKCNT1genemutation....
Gene-based analysis was performed on children with targeted capture second-generation sequencing and the source of mutations was verified by PCR-Sanger. The clinical features of children with KCNT1 mutation were summarized. ResultsIn 175 infants with early-onset epileptic encephalopathy, 6 children ...
【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)11-0727-05A case report of epilepsy in infancy with migrating focal seizure caused by mutation of KCNT1 gene Liu Kang,Sun Suzhen,Chen Fang.Department of ...
Heron et al. studied a family withADNFLEas well as intellectual impairment and psychiatric disease.90They performed linkage analysis and candidate gene sequencing and identified aKCNT1mutation R928C. This result demonstrated thatKCNT1mutations can cause two very different epilepsy phenotypes such asMMPSI...
De novo mutations of the sodium activated potassium channel gene KCTN1 have been found in up to 50% of the patients. The p.Pro924Leu mutation has been found in 2 patients with EIMFS, in vitro studies in heterologous expression systems have shown a significant gain of function effect of ...