| First Author | Puskarjov M | Year | 2014 |
| Journal | EMBO Rep | Volume | 15 |
| Issue | 6 | Pages | 723-9 |
| PubMed ID | 24668262 | Mgi Jnum | J:216536 |
| Mgi Id | MGI:5608958 | Doi | 10.1002/embr.201438749 |
| Citation | Puskarjov M, et al. (2014) A variant of KCC2 from patients with febrile seizures impairs neuronal Cl- extrusion and dendritic spine formation. EMBO Rep 15(6):723-9 |
| abstractText | Genetic variation in SLC12A5 which encodes KCC2, the neuron-specific cation-chloride cotransporter that is essential for hyperpolarizing GABAergic signaling and formation of cortical dendritic spines, has not been reported in human disease. Screening of SLC12A5 revealed a co-segregating variant (KCC2-R952H) in an Australian family with febrile seizures. We show that KCC2-R952H reduces neuronal Cl(-) extrusion and has a compromised ability to induce dendritic spines in vivo and in vitro. Biochemical analyses indicate a reduced surface expression of KCC2-R952H which likely contributes to the functional deficits. Our data suggest that KCC2-R952H is a bona fide susceptibility variant for febrile seizures. |
