Article
Establishment of an induced pluripotent stem cell line (ZJSHi001-A) from a patient with epileptic encephalopathy carrying KCNB1 Glu330Asp mutation.
Stem cell research - 1 Apr 2021
Guo Yufan, Wang Jianda, Wang ZhiLiang, Lou Yuting, Chen Wangyang, Sheng Min, Wang Ye, Zhang Bijun, Gao Liuyan, Feng Jianhua
Abstract excerpt
Early infantile epileptic encephalopathy 26 (EE26) is a form of epileptic encephalopathy, a heterogeneous group of severe childhood-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. A recent study has shown that the KCNB1 gene mutation is associated with EE26; yet, the exact mechanism remains unclear. In this study, we produced an induced pluripotent stem...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
