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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Detalhes bibliográficos
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: BlackWell Publishing Ltd 2014
Assuntos:
Scientific Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4197883/
https://ncbi.nlm.nih.gov/pubmed/24668262
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/embr.201438749
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