Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/11412
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dc.contributor.authorVears, Danya Fen
dc.contributor.authorTsai, Meng-Hanen
dc.contributor.authorSadleir, Lynette Gen
dc.contributor.authorGrinton, Bronwyn Een
dc.contributor.authorLillywhite, Leasha Men
dc.contributor.authorCarney, Patrick Wen
dc.contributor.authorHarvey, A Simonen
dc.contributor.authorBerkovic, Samuel Fen
dc.contributor.authorScheffer, Ingrid Een
dc.date.accessioned2015-05-16T01:00:19Z
dc.date.available2015-05-16T01:00:19Z
dc.date.issued2012-01-05en
dc.identifier.citationEpilepsia 2012; 53(2): 319-24en
dc.identifier.govdoc22220564en
dc.identifier.otherPUBMEDen
dc.identifier.urihttps://ahro.austin.org.au/austinjspui/handle/1/11412en
dc.description.abstractTo accurately determine the frequency and nature of the family history of seizures in patients with benign childhood epilepsy with centrotemporal spikes (BECTS).Participants with BECTS were recruited from the electroencephalography (EEG) laboratories of three pediatric centers and by referral. Pedigrees were constructed for up to three degrees of relatedness for each proband. All available affected and unaffected individuals underwent phenotyping using a validated seizure questionnaire. The proportion of affected relatives according to degree of relatedness was calculated and phenotypic patterns were analyzed.Fifty-three probands with BECTS had a mean age of seizure onset at 7.8 years (range 2-12 years). Thirty-four (64%) of 53 patients were male. For 51 participants, pedigrees were available for three degrees of relatedness. Fifty-seven (2.7%) of 2,085 relatives had a history of seizures: Twenty-one (9.8%) of 214 first-degree, 15 (3%) of 494 second-degree, and 21 (1.5%) of 1,377 third-degree relatives. Febrile seizures were the most frequent phenotype, occurring in 26 of 57 affected relatives. There were 34 relatives with epilepsy: 6.5% (14 of 214) first-degree, 1.8% (9 of 494) second-degree, and 0.8% (11 of 1,377) third-degree relatives. Of 21 affected first-degree relatives: 8 of 21 had febrile seizures (FS), 4 had BECTS, 2 had epilepsy-aphasia spectrum disorder, one had temporal lobe epilepsy with hippocampal sclerosis, 2 had focal epilepsy of unknown cause, 2 had genetic generalized epilepsies, and 3 had miscellaneous.The frequency of epilepsies in relatives and the heterogeneous syndromes observed suggest that BECTS has a genetic component consistent with complex inheritance. Focal epilepsies are the most common seizure disorder observed in relatives, especially BECTS and epilepsy-aphasia spectrum disorder. Additional acquired or environmental factors are likely to be necessary for expression of the seizure disorder.en
dc.language.isoenen
dc.subject.otherAge of Onseten
dc.subject.otherChilden
dc.subject.otherChild, Preschoolen
dc.subject.otherElectroencephalographyen
dc.subject.otherEpilepsy, Rolandic.geneticsen
dc.subject.otherFemaleen
dc.subject.otherGenetic Predisposition to Diseaseen
dc.subject.otherHumansen
dc.subject.otherMaleen
dc.subject.otherPedigreeen
dc.titleClinical genetic studies in benign childhood epilepsy with centrotemporal spikes.en
dc.typeJournal Articleen
dc.identifier.journaltitleEpilepsiaen
dc.identifier.affiliationEpilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia en
dc.identifier.doi10.1111/j.1528-1167.2011.03368.xen
dc.description.pages319-24en
dc.relation.urlhttps://pubmed.ncbi.nlm.nih.gov/22220564en
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.deptNeurology-
crisitem.author.deptEpilepsy Research Centre-
crisitem.author.deptNeurology-
crisitem.author.deptEpilepsy Research Centre-
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