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dc.contributor.authorHelbig, Ingoen
dc.contributor.authorMatigian, Nicholas Aen
dc.contributor.authorVadlamudi, Lataen
dc.contributor.authorLawrence, Kate Men
dc.contributor.authorBayly, Marta Aen
dc.contributor.authorBain, Sharon Men
dc.contributor.authorDiyagama, Dileepaen
dc.contributor.authorScheffer, Ingrid Een
dc.contributor.authorMulley, John Cen
dc.contributor.authorHolloway, Andrew Jen
dc.contributor.authorDibbens, Leanne Men
dc.contributor.authorBerkovic, Samuel Fen
dc.contributor.authorHayward, Nicholas Ken
dc.identifier.citationEpilepsia 2008; 49(9): 1546-54en
dc.description.abstractTo identify genes involved in idiopathic absence epilepsies by analyzing gene expression using a monozygotic (MZ) twin design.Genome-wide gene expression in lymphoblastoid cell lines (LCLs) was determined using microarrays derived from five discordant and four concordant MZ twin pairs with idiopathic absence epilepsies and five unaffected MZ twin pairs. Gene expression was analyzed using three strategies: discordant MZ twins were compared as matched pairs, MZ twins concordant for epilepsy were compared to control MZ twins, and a singleton design of affected versus unaffected MZ twin individuals was used irrespective of twin pairing. An overlapping gene list was generated from these analyses. Dysregulation of genes recognized from the microarray experiment was validated using quantitative real time PCR (qRT-PCR) in the twin sample and in an independent sample of 18 sporadic absence cases and 24 healthy controls.Sixty-five probe sets were identified from the three combined microarray analysis strategies. Sixteen genes were chosen for validation and nine of these genes confirmed by qRT-PCR in the twin sample. Differential expression for EGR1 (an immediate early gene) and RCN2 (coding for the calcium-binding protein Reticulocalbin 2) were reconfirmed by qRT-PCR in the independent sample.Using a unique sample of discordant MZ twins, our study identified genes with altered expression, which suggests novel mechanisms in idiopathic absence epilepsy. Dysregulation of EGR1 and RCN2 is implicated in idiopathic absence epilepsy.en
dc.subject.otherAnticonvulsants.therapeutic useen
dc.subject.otherCalcium-Binding Proteins.geneticsen
dc.subject.otherCell Line, Tumor.pathologyen
dc.subject.otherEarly Growth Response Protein 1.geneticsen
dc.subject.otherEpilepsy, Absence.diagnosis.drug therapy.geneticsen
dc.subject.otherGene Expression.geneticsen
dc.subject.otherOligonucleotide Array Sequence Analysis.methodsen
dc.subject.otherPrecursor Cell Lymphoblastic Leukemia-Lymphoma.pathologyen
dc.subject.otherReverse Transcriptase Polymerase Chain Reactionen
dc.subject.otherTwins, Monozygotic.geneticsen
dc.subject.otherValproic Acid.therapeutic useen
dc.titleGene expression analysis in absence epilepsy using a monozygotic twin design.en
dc.typeJournal Articleen
dc.identifier.affiliationDepartment of Medicine, Epilepsy Research Centre, University of Melbourne, Austin Health, Australiaen
Appears in Collections:Journal articles

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