A variant of KCC2 from patients with febrile seizures impairs neuronal Cl- extrusion and dendritic spine formation.

doi:10.1002/embr.201438749

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Article

A variant of KCC2 from patients with febrile seizures impairs neuronal Cl- extrusion and dendritic spine formation.

EMBO reports - 1 Jun 2014

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

Abstract excerpt

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...

Topics

Amino Acid Sequence
Animals
Australia
Blotting, Western
Chlorides
Dendritic Spines
Genetic Predisposition to Disease
Humans
Mice
Mice, Inbred ICR

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Microscopy, Fluorescence

Models, Molecular

Molecular Sequence Data

Mutation, Missense

Neurons

Pedigree

Protein Conformation

Rats

Source

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Identifiers

PMID: 24668262
DOI: 10.1002/embr.201438749
PMCID: PMC4197883

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