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Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/12142
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dc.contributor.authorPuskarjov, Martinen
dc.contributor.authorSeja, Patriciaen
dc.contributor.authorHeron, Sarah Een
dc.contributor.authorWilliams, Tristiana Cen
dc.contributor.authorAhmad, Farazen
dc.contributor.authorIona, Xeniaen
dc.contributor.authorOliver, Karen Len
dc.contributor.authorGrinton, Bronwyn Een
dc.contributor.authorVutskits, Laszloen
dc.contributor.authorScheffer, Ingrid Een
dc.contributor.authorPetrou, Stevenen
dc.contributor.authorBlaesse, Peteren
dc.contributor.authorDibbens, Leanne Men
dc.contributor.authorBerkovic, Samuel Fen
dc.contributor.authorKaila, Kaien
dc.date.accessioned2015-05-16T01:47:33Z
dc.date.available2015-05-16T01:47:33Z
dc.date.issued2014-03-24en
dc.identifier.citationEmbo Reports 2014; 15(6): 723-9en
dc.identifier.govdoc24668262en
dc.identifier.otherPUBMEDen
dc.identifier.urihttps://ahro.austin.org.au/austinjspui/handle/1/12142en
dc.description.abstractGenetic 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.en
dc.language.isoenen
dc.subject.otherKCC2en
dc.subject.otherdendritic spinesen
dc.subject.otherfebrile seizuresen
dc.subject.othergenic intoleranceen
dc.subject.othermutationen
dc.subject.otherAmino Acid Sequenceen
dc.subject.otherAnimalsen
dc.subject.otherAustraliaen
dc.subject.otherBlotting, Westernen
dc.subject.otherChlorides.metabolismen
dc.subject.otherDendritic Spines.genetics.pathologyen
dc.subject.otherGenetic Predisposition to Disease.geneticsen
dc.subject.otherHumansen
dc.subject.otherMiceen
dc.subject.otherMice, Inbred ICRen
dc.subject.otherMicroscopy, Fluorescenceen
dc.subject.otherModels, Molecularen
dc.subject.otherMolecular Sequence Dataen
dc.subject.otherMutation, Missense.geneticsen
dc.subject.otherNeurons.metabolismen
dc.subject.otherPedigreeen
dc.subject.otherProtein Conformationen
dc.subject.otherRatsen
dc.subject.otherRats, Wistaren
dc.subject.otherSeizures, Febrile.geneticsen
dc.subject.otherStatistics, Nonparametricen
dc.subject.otherSymporters.genetics.metabolismen
dc.titleA variant of KCC2 from patients with febrile seizures impairs neuronal Cl- extrusion and dendritic spine formation.en
dc.typeJournal Articleen
dc.identifier.journaltitleEMBO reportsen
dc.identifier.affiliationFlorey Institute of Neuroscience and Mental Health and the Center for Neural Engineering, The University of Melbourne, Parkville, Victoria, Australiaen
dc.identifier.affiliationEpilepsy Research Program, School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, SA, Australiaen
dc.identifier.affiliationDepartment of Medicine, Epilepsy Research Center, The University of Melbourne Austin Health, Melbourne Victoria, Australiaen
dc.identifier.affiliationEpilepsy Research Program, School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, SA, Australia Sansom Institute for Health Research, University of South Australia, Adelaide SA, Australiaen
dc.identifier.affiliationDepartment of Paediatrics, Florey Institute, Royal Children's Hospital The University of Melbourne, Melbourne, Victoria, Australiaen
dc.identifier.affiliationDepartment of Medicine, Epilepsy Research Center, The University of Melbourne Austin Health, Melbourne Victoria, Australia Department of Paediatrics, Florey Institute, Royal Children's Hospital The University of Melbourne, Melbourne, Victoria, Australiaen
dc.identifier.affiliationDepartment of Biosciences, University of Helsinki, Helsinki, Finland Neuroscience Center, University of Helsinki, Helsinki, Finland.en
dc.identifier.affiliationDepartment of Anesthesiology, Pharmacology and Intensive Care, University Hospital of Geneva, Geneva, Switzerland.en
dc.identifier.affiliationDepartment of Biosciences, University of Helsinki, Helsinki, Finland Institute of Physiology I, Westfälische Wilhelms-University Münster, Münster, Germany.en
dc.identifier.affiliationDepartment of Biosciences, University of Helsinki, Helsinki, Finland Neuroscience Center, University of Helsinki, Helsinki, Finland Kai.Kaila@Helsinki.fi.en
dc.identifier.doi10.1002/embr.201438749en
dc.description.pages723-9en
dc.relation.urlhttps://pubmed.ncbi.nlm.nih.gov/24668262en
dc.type.austinJournal Articleen
local.name.researcherBerkovic, Samuel F
item.languageiso639-1en-
item.cerifentitytypePublications-
item.fulltextNo Fulltext-
item.grantfulltextnone-
item.openairetypeJournal Article-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
crisitem.author.deptEpilepsy Research Centre-
crisitem.author.deptEpilepsy Research Centre-
crisitem.author.deptNeurology-
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