Ontology highlight
ABSTRACT:
SUBMITTER: Kahle KT
PROVIDER: S-EPMC4196980 | biostudies-literature | 2014 Jul
REPOSITORIES: biostudies-literature
EMBO reports 20140613 7
The KCC2 cotransporter establishes the low neuronal Cl(-) levels required for GABAA and glycine (Gly) receptor-mediated inhibition, and KCC2 deficiency in model organisms results in network hyperexcitability. However, no mutations in KCC2 have been documented in human disease. Here, we report two non-synonymous functional variants in human KCC2, R952H and R1049C, exhibiting clear statistical association with idiopathic generalized epilepsy (IGE). These variants reside in conserved residues in th ...[more]