A variant of KCC2 from patients with febrile seizures impairs neuronal Cl(−) extrusion and dendritic spine formation

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 (KCC...

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Detalles Bibliográficos
Autores principales: Puskarjov, Martin, Seja, Patricia, Heron, Sarah E, Williams, Tristiana C, Ahmad, Faraz, Iona, Xenia, Oliver, Karen L, Grinton, Bronwyn E, Vutskits, Laszlo, Scheffer, Ingrid E, Petrou, Steven, Blaesse, Peter, Dibbens, Leanne M, Berkovic, Samuel F, Kaila, Kai
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BlackWell Publishing Ltd 2014
Materias:
Scientific Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4197883/
https://www.ncbi.nlm.nih.gov/pubmed/24668262
http://dx.doi.org/10.1002/embr.201438749

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4197883/
https://www.ncbi.nlm.nih.gov/pubmed/24668262
http://dx.doi.org/10.1002/embr.201438749

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