Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/13158
Full metadata record
DC FieldValueLanguage
dc.contributor.authorScheffer, Ingrid Een
dc.contributor.authorBhatia, K Pen
dc.contributor.authorLopes-Cendes, Ien
dc.contributor.authorFish, D Ren
dc.contributor.authorMarsden, C Den
dc.contributor.authorAndermann, Evaen
dc.contributor.authorAndermann, Fredericken
dc.contributor.authorDesbiens, Ren
dc.contributor.authorKeene, Den
dc.contributor.authorCendes, Fen
dc.date.accessioned2015-05-16T02:56:50Z
dc.date.available2015-05-16T02:56:50Z
dc.date.issued1995-02-01en
dc.identifier.citationBrain : A Journal of Neurology; 118 ( Pt 1)(): 61-73en
dc.identifier.govdoc7895015en
dc.identifier.otherPUBMEDen
dc.identifier.urihttps://ahro.austin.org.au/austinjspui/handle/1/13158en
dc.description.abstractThe disorder of autosomal dominant nocturnal frontal lobe epilepsy has recently been identified, and is now delineated in detail. A phenotypically homogeneous group of five families from Australia, Britain and Canada, containing 47 affected individuals, was studied. The largest family contained 25 affected individuals spanning six generations. This disorder is characterized by clusters of brief nocturnal motor seizures, with hyperkinetic or tonic manifestations. Subjects often experienced an aura, and remained aware throughout the attacks. Seizures occurred in clusters (mean eight attacks/night) typically as the individual dozed, or shortly before awakening. The epilepsy usually began in childhood, and persisted through adult life, with considerable intra-family variation in severity. Seizures were often misdiagnosed as benign nocturnal parasomnias, psychiatric and medical disorders. Interictal EEG studies were unhelpful. Ictal video-EEG studies showed that the attacks were partial seizures with frontal lobe seizure semiology. Neuro-imaging was normal. Carbamazepine monotherapy was frequently effective. This disorder showed autosomal dominant inheritance. Recognition of this entity is clinically important for diagnosis, appropriate therapy and genetic counselling. Moreover, this disorder now offers an opportunity to identify a gene for partial epilepsy.en
dc.language.isoenen
dc.subject.otherAdolescenten
dc.subject.otherAdulten
dc.subject.otherElectroencephalographyen
dc.subject.otherEpilepsy.drug therapy.genetics.physiopathologyen
dc.subject.otherFemaleen
dc.subject.otherFrontal Lobe.physiopathologyen
dc.subject.otherHallucinationsen
dc.subject.otherHumansen
dc.subject.otherMaleen
dc.subject.otherMiddle Ageden
dc.titleAutosomal dominant nocturnal frontal lobe epilepsy. A distinctive clinical disorder.en
dc.typeJournal Articleen
dc.identifier.journaltitleBrainen
dc.identifier.affiliationDepartment of Neurology, Austin Hospital, Heidelberg, Melbourne, Victoria, Australiaen
dc.description.pages61-73en
dc.relation.urlhttps://pubmed.ncbi.nlm.nih.gov/7895015en
dc.type.austinJournal Articleen
local.name.researcherScheffer, Ingrid E
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.cerifentitytypePublications-
item.fulltextWith Fulltext-
item.grantfulltextopen-
item.languageiso639-1en-
item.openairetypeJournal Article-
crisitem.author.deptEpilepsy Research Centre-
Appears in Collections:Journal articles
Files in This Item:
File Description SizeFormat 
7895015.pdf3.12 MBAdobe PDFThumbnail
View/Open
Show simple item record

Page view(s)

26
checked on Mar 28, 2024

Download(s)

806
checked on Mar 28, 2024

Google ScholarTM

Check


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