[Genetic and clinical analysis of children with early-onset epilepsy encephalopathy caused by KCNT1 gene mutation].

Y Chen、Xinhua Bao、Q P Zhang、Jiayu Wang、Yuhan Wen、Sisi Yu、Yunze Zhao

2018PubMedBiochemistry, Genetics and Molecular Biology被引 4

摘要

The mutation of KCNT1 gene is mainly de novo. The onset of the disease was early, and mostly occurs in neonate and early infancy. The main seizure type was epilepsy of infancy with migrating focal seizure. Patients usually had severe psychomotor developmental delay. Antiepileptic drugs are ineffective. The efficacy of quinidine was not significant. Though, it still need studies on a large sample.

引用本文（GB/T 7714）

Y Chen, Xinhua Bao, Q P Zhang, 等. [Genetic and clinical analysis of children with early-onset epilepsy encephalopathy caused by KCNT1 gene mutation].[J]. PubMed, 2018.

引文网络

参考文献与被引分析加载中…

DOI：https://doi.org/10.3760/cma.j.issn.0578-1310.2018.11.007

本站仅收录题录与摘要供学习参考，全文版权归属出版方；如有侵权请联系我们删除。