Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/9296
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dc.contributor.authorScheffer, Ingrid Een
dc.date.accessioned2015-05-15T22:19:54Z
dc.date.available2015-05-15T22:19:54Z
dc.date.issued2000en
dc.identifier.citationEpileptic Disorders : International Epilepsy Journal With Videotape; 2 Suppl 1(): S19-22en
dc.identifier.govdoc11231219en
dc.identifier.otherPUBMEDen
dc.identifier.urihttp://ahro.austin.org.au/austinjspui/handle/1/9296en
dc.description.abstractAutosomal Dominant Rolandic Epilepsy with Speech Dyspraxia (ADRESD) is a rare disorder which highlights the relationship between Benign Rolandic Epilepsy (BRE) and speech and language disorders. Subtle speech and language disorders have recently been well characterised in BRE. ADRESD is associated with long term, more severe speech and language difficulties. The time course of rolandic epilepsy in ADRESD is typical of that of BRE. ADRESD is inherited in an autosomal dominant manner with anticipation. It is postulated that the anticipation may be due to an, as yet unidentified, triplet repeat expansion in a gene for rolandic epilepsy. BRE follows complex inheritance but it is possible that ADRESD may hold some valuable clues to the pathogenesis of BRE.en
dc.language.isoenen
dc.subject.otherAge of Onseten
dc.subject.otherAgeden
dc.subject.otherAnticipation, Geneticen
dc.subject.otherApraxias.geneticsen
dc.subject.otherChilden
dc.subject.otherChild, Preschoolen
dc.subject.otherCognitionen
dc.subject.otherDisease Progressionen
dc.subject.otherElectroencephalographyen
dc.subject.otherEpilepsy, Rolandic.complications.genetics.physiopathology.psychologyen
dc.subject.otherFemaleen
dc.subject.otherGenes, Dominanten
dc.subject.otherHumansen
dc.subject.otherInfanten
dc.subject.otherIntelligenceen
dc.subject.otherMagnetic Resonance Imagingen
dc.subject.otherMaleen
dc.subject.otherPedigreeen
dc.titleAutosomal dominant rolandic epilepsy with speech dyspraxia.en
dc.typeJournal Articleen
dc.identifier.journaltitleEpileptic disorders : international epilepsy journal with videotapeen
dc.identifier.affiliationDepartments of Neurology, Austin and Repatriation Medical Centre, Royal Children's Hospital, Monash Medical Centre, and University of Melbourne, Australiaen
dc.description.pagesS19-22en
dc.relation.urlhttps://pubmed.ncbi.nlm.nih.gov/11231219en
dc.type.austinJournal Articleen
item.grantfulltextnone-
item.languageiso639-1en-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.openairetypeJournal Article-
item.fulltextNo Fulltext-
item.cerifentitytypePublications-
crisitem.author.deptEpilepsy Research Centre-
Appears in Collections:Journal articles
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