Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/11105
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dc.contributor.authorLawrence, Kate Men
dc.contributor.authorMei, Davideen
dc.contributor.authorNewton, Mark Ren
dc.contributor.authorLeventer, Richard Jen
dc.contributor.authorGuerrini, Renzoen
dc.contributor.authorBerkovic, Samuel Fen
dc.date.accessioned2015-05-16T00:41:34Z
dc.date.available2015-05-16T00:41:34Z
dc.date.issued2010-09-01en
dc.identifier.citationEpilepsia; 51(9): 1902-5en
dc.identifier.govdoc20726879en
dc.identifier.otherPUBMEDen
dc.identifier.urihttps://ahro.austin.org.au/austinjspui/handle/1/11105en
dc.description.abstractLennox-Gastaut syndrome (LGS) has numerous causes,but only rarely has familial recurrence been observed. We studied a family in which three male members had severe epilepsy and intellectual disability. The proband had seizure onset at 7 years of age with atonic, myoclonic, atypical absence, and tonic seizures with slow spike-wave on electroencephalography (EEG). One living sibling had a similar clinical pattern. One deceased sibling was known to have had seizures with intellectual disability. Neuroimaging revealed anterior predominant pachygyria. DNA sequencing of the gene doublecortin (DCX) on the X chromosome revealed a novel missense mutation in the two living affected male siblings. The occurrence of three affected male family members with proven or suspected LGS in this family was puzzling and only solved by a combination of magnetic resonance (MR) and molecular genetics evaluations. This finding provided essential information for genetic counseling.en
dc.language.isoenen
dc.subject.otherDNA Mutational Analysisen
dc.subject.otherDiseases in Twins.geneticsen
dc.subject.otherElectroencephalographyen
dc.subject.otherEpilepsies, Myoclonic.diagnosis.geneticsen
dc.subject.otherEpilepsy.diagnosis.geneticsen
dc.subject.otherEpilepsy, Generalized.diagnosisen
dc.subject.otherFamilyen
dc.subject.otherFemaleen
dc.subject.otherHumansen
dc.subject.otherLissencephaly.diagnosis.geneticsen
dc.subject.otherMaleen
dc.subject.otherMicrotubule-Associated Proteins.geneticsen
dc.subject.otherMiddle Ageden
dc.subject.otherMutation, Missense.geneticsen
dc.subject.otherNeuropeptides.geneticsen
dc.subject.otherPedigreeen
dc.subject.otherPhosphoproteins.geneticsen
dc.subject.otherReceptors, G-Protein-Coupled.geneticsen
dc.subject.otherSiblingsen
dc.subject.otherSyndromeen
dc.titleFamilial Lennox-Gastaut syndrome in male siblings with a novel DCX mutation and anterior pachygyria.en
dc.typeJournal Articleen
dc.identifier.journaltitleEpilepsiaen
dc.identifier.affiliationEpilepsy Research Centre, Austin Health and University of Melbourne, Melbourne, Australiaen
dc.identifier.doi10.1111/j.1528-1167.2010.02694.xen
dc.description.pages1902-5en
dc.relation.urlhttps://pubmed.ncbi.nlm.nih.gov/20726879en
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-
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