Article
Modeling Dravet syndrome using induced pluripotent stem cells (iPSCs) and directly converted neurons.
Human molecular genetics - 1 Nov 2013
Jiao Jiao, Yang Yuanyuan, Shi Yiwu, Chen Jiayu, Gao Rui, Fan Yong, Yao Hui, Liao Weiping, Sun Xiao-Fang, Gao Shaorong
Abstract excerpt
Severe myoclonic epilepsy of infancy (SMEI, also known as Dravet syndrome) and genetic epilepsy with febrile seizures plus (mild febrile seizures) can both arise due to mutations of SCN1A, the gene encoding alpha 1 pore-forming subunit of the Nav1.1 voltage-gated sodium channel. Owing to the inaccessibility of patient brain neurons, the precise mechanism of mild febrile seizures and SMEI remains elusive, and...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
