Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/9797
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dc.contributor.authorBerkovic, Samuel Fen
dc.contributor.authorSerratosa, Jose Men
dc.contributor.authorPhillips, Hilary Aen
dc.contributor.authorXiong, Lanen
dc.contributor.authorAndermann, Evaen
dc.contributor.authorDíaz-Otero, Fernandoen
dc.contributor.authorGómez-Garre, Pilaren
dc.contributor.authorMartín, Mercedesen
dc.contributor.authorFernández-Bullido, Yolandaen
dc.contributor.authorAndermann, Fredericken
dc.contributor.authorLopes-Cendes, Isciaen
dc.contributor.authorDubeau, Francoisen
dc.contributor.authorDesbiens, Richarden
dc.contributor.authorScheffer, Ingrid Een
dc.contributor.authorWallace, Robyn Hen
dc.contributor.authorMulley, John Cen
dc.contributor.authorPandolfo, Massimoen
dc.date.accessioned2015-05-15T23:02:31Z
dc.date.available2015-05-15T23:02:31Z
dc.date.issued2004-09-01en
dc.identifier.citationEpilepsia; 45(9): 1054-60en
dc.identifier.govdoc15329069en
dc.identifier.otherPUBMEDen
dc.identifier.urihttps://ahro.austin.org.au/austinjspui/handle/1/9797en
dc.description.abstractFamilial partial epilepsy with variable foci (FPEVF) is an autosomal dominant syndrome characterized by partial seizures originating from different brain regions in different family members in the absence of detectable structural abnormalities. A gene for FPEVF was mapped to chromosome 22q12 in two distantly related French-Canadian families.We describe the clinical features and performed a linkage analysis in a Spanish kindred and in a third French-Canadian family distantly related to the original pedigrees.Onset of seizures was typically in middle childhood, and attacks were usually easy to control. Seizure semiology varied among family members but was constant for each individual. In some, a pattern of nocturnal frontal lobe seizures led to consideration of the diagnosis of autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). The Spanish family was mapped to chromosome 22q (multipoint lod score, 3.4), and the new French-Canadian family had a multipoint lod score of 2.97 and shared the haplotype of the original French-Canadian families.Identification of the various forms of familial partial epilepsy is challenging, particularly in small families, in which insufficient individuals exist to identify a specific pattern. We provide clinical guidelines for this task, which will eventually be supplanted by specific molecular diagnosis. We confirmed linkage of FPEVF to chromosome 22q12 and redefined the region to a 5.2-Mb segment of DNA.en
dc.language.isoenen
dc.subject.otherAdolescenten
dc.subject.otherAdulten
dc.subject.otherAge of Onseten
dc.subject.otherCanadaen
dc.subject.otherChilden
dc.subject.otherChromosome Mappingen
dc.subject.otherChromosomes, Human, Pair 22.geneticsen
dc.subject.otherDiagnosis, Differentialen
dc.subject.otherEpilepsies, Partial.diagnosis.geneticsen
dc.subject.otherEpilepsy, Frontal Lobe.diagnosis.geneticsen
dc.subject.otherFemaleen
dc.subject.otherGenetic Linkageen
dc.subject.otherGenetic Markersen
dc.subject.otherHaplotypesen
dc.subject.otherHumansen
dc.subject.otherLod Scoreen
dc.subject.otherMaleen
dc.subject.otherPedigreeen
dc.subject.otherPhenotypeen
dc.subject.otherSpainen
dc.titleFamilial partial epilepsy with variable foci: clinical features and linkage to chromosome 22q12.en
dc.typeJournal Articleen
dc.identifier.journaltitleEpilepsiaen
dc.identifier.affiliationEpilepsy Research Centre, University of Melbourne, Austin & Repatriation Medical Centre, Victoria, Australiaen
dc.identifier.doi10.1111/j.0013-9580.2004.30502.xen
dc.description.pages1054-60en
dc.relation.urlhttps://pubmed.ncbi.nlm.nih.gov/15329069en
dc.type.austinJournal Articleen
local.name.researcherBerkovic, Samuel F
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.cerifentitytypePublications-
item.fulltextNo Fulltext-
item.grantfulltextnone-
item.languageiso639-1en-
item.openairetypeJournal Article-
crisitem.author.deptEpilepsy Research Centre-
crisitem.author.deptNeurology-
crisitem.author.deptEpilepsy Research Centre-
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