Ontology highlight
ABSTRACT:
SUBMITTER: Tang QY
PROVIDER: S-EPMC4706775 | biostudies-literature | 2016 Jan
REPOSITORIES: biostudies-literature
Cell reports 20151224 1
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 over-activity only when the intracellular Na(+) ([Na(+)]i) concentration is ∼80 mM. In c ...[more]