Ontology highlight
ABSTRACT:
SUBMITTER: Stodberg T
PROVIDER: S-EPMC4569694 | biostudies-literature | 2015 Sep
REPOSITORIES: biostudies-literature
Nature communications 20150903
The potassium-chloride co-transporter KCC2, encoded by SLC12A5, plays a fundamental role in fast synaptic inhibition by maintaining a hyperpolarizing gradient for chloride ions. KCC2 dysfunction has been implicated in human epilepsy, but to date, no monogenic KCC2-related epilepsy disorders have been described. Here we show recessive loss-of-function SLC12A5 mutations in patients with a severe infantile-onset pharmacoresistant epilepsy syndrome, epilepsy of infancy with migrating focal seizures ...[more]