| http://purl.uniprot.org/citations/24928908 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/24928908 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/24928908 | http://www.w3.org/2000/01/rdf-schema#comment | "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 the KCC2 cytoplasmic C-terminus, exhibit significantly impaired Cl(-)-extrusion capacities resulting in less hyperpolarized Gly equilibrium potentials (EG ly), and impair KCC2 stimulatory phosphorylation at serine 940, a key regulatory site. These data describe a novel KCC2 variant significantly associated with a human disease and suggest genetically encoded impairment of KCC2 functional regulation may be a risk factor for the development of human IGE."xsd:string |
| http://purl.uniprot.org/citations/24928908 | http://purl.org/dc/terms/identifier | "doi:10.15252/embr.201438840"xsd:string |
| http://purl.uniprot.org/citations/24928908 | http://purl.org/dc/terms/identifier | "doi:10.15252/embr.201438840"xsd:string |
| http://purl.uniprot.org/citations/24928908 | http://purl.uniprot.org/core/author | "Dionne-Laporte A."xsd:string |
| http://purl.uniprot.org/citations/24928908 | http://purl.uniprot.org/core/author | "Dionne-Laporte A."xsd:string |
| http://purl.uniprot.org/citations/24928908 | http://purl.uniprot.org/core/author | "Liang B."xsd:string |
| http://purl.uniprot.org/citations/24928908 | http://purl.uniprot.org/core/author | "Liang B."xsd:string |
| http://purl.uniprot.org/citations/24928908 | http://purl.uniprot.org/core/author | "Shang Y."xsd:string |
| http://purl.uniprot.org/citations/24928908 | http://purl.uniprot.org/core/author | "Shang Y."xsd:string |
| http://purl.uniprot.org/citations/24928908 | http://purl.uniprot.org/core/author | "Rouleau G.A."xsd:string |
| http://purl.uniprot.org/citations/24928908 | http://purl.uniprot.org/core/author | "Rouleau G.A."xsd:string |
| http://purl.uniprot.org/citations/24928908 | http://purl.uniprot.org/core/author | "Spiegelman D."xsd:string |
| http://purl.uniprot.org/citations/24928908 | http://purl.uniprot.org/core/author | "Spiegelman D."xsd:string |
| http://purl.uniprot.org/citations/24928908 | http://purl.uniprot.org/core/author | "Majewski J."xsd:string |
| http://purl.uniprot.org/citations/24928908 | http://purl.uniprot.org/core/author | "Majewski J."xsd:string |
| http://purl.uniprot.org/citations/24928908 | http://purl.uniprot.org/core/author | "Moss S.J."xsd:string |
| http://purl.uniprot.org/citations/24928908 | http://purl.uniprot.org/core/author | "Moss S.J."xsd:string |
| http://purl.uniprot.org/citations/24928908 | http://purl.uniprot.org/core/author | "Cossette P."xsd:string |
| http://purl.uniprot.org/citations/24928908 | http://purl.uniprot.org/core/author | "Cossette P."xsd:string |
| http://purl.uniprot.org/citations/24928908 | http://purl.uniprot.org/core/author | "Awadalla P."xsd:string |
| http://purl.uniprot.org/citations/24928908 | http://purl.uniprot.org/core/author | "Awadalla P."xsd:string |
| http://purl.uniprot.org/citations/24928908 | http://purl.uniprot.org/core/author | "Khanna A."xsd:string |
| http://purl.uniprot.org/citations/24928908 | http://purl.uniprot.org/core/author | "Khanna A."xsd:string |