Please use this identifier to cite or link to this item: http://ahro.austin.org.au/austinjspui/handle/1/11532
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dc.contributor.authorKlein, Karl Martinen
dc.contributor.authorO'Brien, Terence Jen
dc.contributor.authorPraveen, Kavitaen
dc.contributor.authorHeron, Sarah Een
dc.contributor.authorMulley, John Cen
dc.contributor.authorFoote, Simonen
dc.contributor.authorBerkovic, Samuel Fen
dc.contributor.authorScheffer, Ingrid Een
dc.date.accessioned2015-05-16T01:08:45Z
dc.date.available2015-05-16T01:08:45Z
dc.date.issued2012-07-10en
dc.identifier.citationEpilepsia 2012; 53(8): e151-5en
dc.identifier.govdoc22780917en
dc.identifier.otherPUBMEDen
dc.identifier.urihttp://ahro.austin.org.au/austinjspui/handle/1/11532en
dc.description.abstractWe aimed to refine the phenotypic spectrum and map the causative gene in two families with familial focal epilepsy with variable foci (FFEVF). A new five-generation Australian FFEVF family (A) underwent electroclinical phenotyping, and the original four-generation Australian FFEVF family (B) (Ann Neurol, 44, 1998, 890) was re-analyzed, including new affected individuals. Mapping studies examined segregation at the chromosome 22q12 FFEVF region. In family B, the original whole genome microsatellite data was reviewed. Five subjects in family A and 10 in family B had FFEVF with predominantly awake attacks and active EEG studies with a different phenotypic picture from other families. In family B, reanalysis excluded the tentative 2q locus reported. Both families mapped to chromosome 22q12. Our results confirm chromosome 22q12 as the solitary locus for FFEVF. Both families show a subtly different phenotype to other published families extending the clinical spectrum of FFEVF.en
dc.language.isoenen
dc.subject.otherAdolescenten
dc.subject.otherAdulten
dc.subject.otherChilden
dc.subject.otherChild, Preschoolen
dc.subject.otherChromosome Mappingen
dc.subject.otherChromosomes, Human, 21-22 and Y.geneticsen
dc.subject.otherElectroencephalographyen
dc.subject.otherEpilepsies, Partial.genetics.physiopathologyen
dc.subject.otherFemaleen
dc.subject.otherGenetic Linkage.geneticsen
dc.subject.otherGenotypeen
dc.subject.otherHumansen
dc.subject.otherInfanten
dc.subject.otherLod Scoreen
dc.subject.otherMaleen
dc.subject.otherMicrosatellite Repeats.geneticsen
dc.subject.otherPedigreeen
dc.subject.otherPhenotypeen
dc.subject.otherYoung Adulten
dc.titleFamilial focal epilepsy with variable foci mapped to chromosome 22q12: expansion of the phenotypic spectrum.en
dc.typeJournal Articleen
dc.identifier.journaltitleEpilepsiaen
dc.identifier.affiliationEpilepsy Research Centre, University of Melbourne, Austin Health, Heidelberg, Victoria, Australiaen
dc.identifier.doi10.1111/j.1528-1167.2012.03585.xen
dc.description.pagese151-5en
dc.relation.urlhttp://www.ncbi.nlm.nih.gov/pubmed/22780917en
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