Please use this identifier to cite or link to this item: http://ahro.austin.org.au/austinjspui/handle/1/10210
Full metadata record
DC FieldValueLanguage
dc.contributor.authorFedi, Marcoen
dc.contributor.authorBerkovic, Samuel Fen
dc.contributor.authorMarini, Carlaen
dc.contributor.authorMulligan, Rachel Sen
dc.contributor.authorTochon-Danguy, Henrien
dc.contributor.authorReutens, David Cen
dc.date.accessioned2015-05-15T23:35:18Z
dc.date.available2015-05-15T23:35:18Z
dc.date.issued2006-07-27en
dc.identifier.citationNeuroimage 2006; 32(3): 995-1000en
dc.identifier.govdoc16875845en
dc.identifier.otherPUBMEDen
dc.identifier.urihttp://ahro.austin.org.au/austinjspui/handle/1/10210en
dc.description.abstractUnderstanding the consequences of newly discovered single gene mutations causing human epilepsy has the potential to yield new insights into the underlying mechanisms of this disorder. A mutation of the gamma2 subunit of the GABA(A) receptor, which substitutes glutamine for arginine at position 43 (R43Q) has been found in a familial generalized epilepsy. We tested the hypothesis that individuals affected by the GABRG2(R43Q) mutation have reduced binding to the GABA(A) receptor complex using positron emission tomography (PET) and the benzodiazepine receptor ligand [(11)C]-flumazenil. Fourteen subjects with the GABRG2(R43Q) mutation and 20 controls were studied. Benzodiazepine receptor binding was reduced in subjects with the mutation (mean whole brain binding potential for [(11)C]-flumazenil: GABA(A) mutation 0.66+/-0.1; controls 0.89+/-0.1; P<0.003). The greatest change in benzodiazepine binding occurred anteriorly, with peak differences in insular and anterior cingulate cortices revealed by statistical parametric mapping. Our findings provide in vivo evidence of reduced benzodiazepine receptor binding in subjects with the mutation. As synaptic inhibition in the human brain is largely mediated by the GABA(A) receptor, these findings are likely to represent an important clue to the mechanisms linking this gene defect and the epilepsy phenotype.en
dc.language.isoenen
dc.subject.otherAdulten
dc.subject.otherAgeden
dc.subject.otherBrain Mappingen
dc.subject.otherEpilepsy, Generalized.genetics.radionuclide imagingen
dc.subject.otherFemaleen
dc.subject.otherFlumazenil.metabolismen
dc.subject.otherGABA Modulators.metabolismen
dc.subject.otherGyrus Cinguli.metabolism.radionuclide imagingen
dc.subject.otherHumansen
dc.subject.otherImage Processing, Computer-Assisteden
dc.subject.otherMagnetic Resonance Imagingen
dc.subject.otherMaleen
dc.subject.otherMiddle Ageden
dc.subject.otherMutation.physiologyen
dc.subject.otherPositron-Emission Tomographyen
dc.subject.otherReceptors, GABA-A.genetics.metabolismen
dc.titleA GABAA receptor mutation causing generalized epilepsy reduces benzodiazepine receptor binding.en
dc.typeJournal Articleen
dc.identifier.journaltitleNeuroImageen
dc.identifier.affiliationDepartment of Medicine, The University of Melbourne, Austin Health Heidelberg, Victoria, Australiaen
dc.identifier.doi10.1016/j.neuroimage.2006.05.059en
dc.description.pages995-1000en
dc.relation.urlhttp://www.ncbi.nlm.nih.gov/pubmed/16875845en
Appears in Collections:Journal articles

Files in This Item:
There are no files associated with this item.


Items in AHRO are protected by copyright, with all rights reserved, unless otherwise indicated.