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A variant of KCC2 from patients with febrile seizures impairs neuronal Cl- extrusion and dendritic spine formation
- Publication Year :
- 2014
-
Abstract
- 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.
Details
- Database :
- OAIster
- Publication Type :
- Electronic Resource
- Accession number :
- edsoai.on1315677881
- Document Type :
- Electronic Resource