Article
Epilepsy-Related Slack Channel Mutants Lead to Channel Over-Activity by Two Different Mechanisms.
Cell reports - 5 Jan 2016
Tang Qiong-Yao, Zhang Fei-Fei, Xu Jie, Wang Ran, Chen Jian, Logothetis Diomedes E, Zhang Zhe
Abstract excerpt
Twelve sodium-activated potassium channel (KCNT1, Slack) genetic mutants have been identified from severe early-onset epilepsy patients. The changes in biophysical properties of these mutants and the underlying mechanisms causing disease remain elusive. Here, we report that seven of the 12 mutations increase, whereas one mutation decreases, the channel's sodium sensitivity. Two of the mutants exhibit channel...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.