Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/13631
Full metadata record
DC FieldValueLanguage
dc.contributor.authorScheffer, Ingrid Een
dc.contributor.authorPhillips, H Aen
dc.contributor.authorO'Brien, C Een
dc.contributor.authorSaling, Michael Men
dc.contributor.authorWrennall, J Aen
dc.contributor.authorWallace, Robyn Hen
dc.contributor.authorMulley, John Cen
dc.contributor.authorBerkovic, Samuel Fen
dc.date.accessioned2015-05-16T03:31:17Z
dc.date.available2015-05-16T03:31:17Z
dc.date.issued1998-12-01en
dc.identifier.citationAnnals of Neurology; 44(6): 890-9en
dc.identifier.govdoc9851433en
dc.identifier.otherPUBMEDen
dc.identifier.urihttps://ahro.austin.org.au/austinjspui/handle/1/13631en
dc.description.abstractFamilial partial epilepsy with variable foci (FPEVF) joins the recently recognized group of inherited partial epilepsies. We describe an Australian family with 10 individuals with partial seizures over four generations. Detailed electroclinical studies were performed on all affected and 17 clinically unaffected family members. The striking finding was that the clinical features of the seizures and interictal electroencephalographic foci differed among family members and included frontal, temporal, occipital, and centroparietal seizures. Mean age of seizure onset was 13 years (range, 0.75-43 years). Two individuals without seizures had epileptiform abnormalities on electroencephalographic studies. Penetrance of seizures was 62%. A genome-wide search failed to demonstrate definitive linkage, but a suggestion of linkage was found on chromosome 2q with a LOD score of 2.74 at recombination fraction of zero with the marker D2S133. FPEVF differs from the other inherited partial epilepsies where partial seizures in different family members are clinically similar. The inherited nature of this new syndrome may be overlooked because of relatively low penetrance and because of the variability in age at onset and electroclinical features between affected family members.en
dc.language.isoenen
dc.subject.otherAdulten
dc.subject.otherChilden
dc.subject.otherChild, Preschoolen
dc.subject.otherChromosomes, Human, Pair 2.geneticsen
dc.subject.otherElectroencephalographyen
dc.subject.otherEpilepsies, Partial.diagnosis.genetics.psychologyen
dc.subject.otherFemaleen
dc.subject.otherGenetic Linkage.geneticsen
dc.subject.otherGenetic Markersen
dc.subject.otherHumansen
dc.subject.otherLod Scoreen
dc.subject.otherMaleen
dc.subject.otherMiddle Ageden
dc.subject.otherNeuropsychological Testsen
dc.subject.otherPedigreeen
dc.subject.otherSyndromeen
dc.subject.otherTomography, X-Ray Computeden
dc.titleFamilial partial epilepsy with variable foci: a new partial epilepsy syndrome with suggestion of linkage to chromosome 2.en
dc.typeJournal Articleen
dc.identifier.journaltitleAnnals of Neurologyen
dc.identifier.affiliationDepartment of Neurology, Austin and Repatriation Medical Centre, Heidelberg (Melbourne), University of Melbourne, Victoria, Australiaen
dc.identifier.doi10.1002/ana.410440607en
dc.description.pages890-9en
dc.relation.urlhttps://pubmed.ncbi.nlm.nih.gov/9851433en
dc.type.austinJournal Articleen
local.name.researcherBerkovic, Samuel F
item.openairetypeJournal Article-
item.cerifentitytypePublications-
item.fulltextNo Fulltext-
item.grantfulltextnone-
item.languageiso639-1en-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
crisitem.author.deptEpilepsy Research Centre-
crisitem.author.deptClinical Neuropsychology-
crisitem.author.deptThe Florey Institute of Neuroscience and Mental Health-
crisitem.author.deptEpilepsy Research Centre-
crisitem.author.deptNeurology-
Appears in Collections:Journal articles
Show simple item record

Page view(s)

34
checked on Mar 1, 2024

Google ScholarTM

Check


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