Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/9755
Full metadata record
DC FieldValueLanguage
dc.contributor.authorTaylor, Isabellaen
dc.contributor.authorMarini, Carlaen
dc.contributor.authorJohnson, Michael Ren
dc.contributor.authorTurner, Samantha Jen
dc.contributor.authorBerkovic, Samuel Fen
dc.contributor.authorScheffer, Ingrid Een
dc.date.accessioned2015-05-15T22:57:51Z
dc.date.available2015-05-15T22:57:51Z
dc.date.issued2004-06-16en
dc.identifier.citationBrain : A Journal of Neurology 2004; 127(Pt 8): 1878-86en
dc.identifier.govdoc15201194en
dc.identifier.otherPUBMEDen
dc.identifier.urihttps://ahro.austin.org.au/austinjspui/handle/1/9755en
dc.description.abstractAlthough epileptic photosensitivity is well known, its genetics and syndromic associations are incompletely understood. Seizures triggered by photic stimulation are usually a manifestation of the idiopathic generalized epilepsies, especially juvenile myoclonic epilepsy (JME), or of the occipital epilepsies. Idiopathic photosensitive occipital epilepsy (IPOE) is a focal epilepsy with colourful elementary visual auras, often with conscious tonic head and eye version; myoclonus is not a feature. All seizures are induced by photic stimuli. We describe four families with phenotypic overlap between JME and IPOE. Families were identified if two or more affected individuals had visual auras and electro-clinical features of an idiopathic epilepsy. Family members underwent detailed electro-clinical assessment. In addition, 40 unrelated JME probands were investigated systematically for unrecognized features of IPOE (visual aura and conscious head version). There were 12 affected individuals in four families; 11 were female. Clinical onset was at 8-21 years of age. Of 10 patients with visual auras, six had conscious head version and five also experienced myoclonic jerks; eight had non-photic induced tonic-clonic seizures (TCS). Of the remaining individuals, one had myoclonic jerks and occipital spikes; the other had TCS without visual aura or myoclonic jerks. Of 10 patients with EEG studies, eight had generalized spike and wave (GSW) and six had occipital spikes. All had photosensitivity with GSW and four had additional occipital spikes. Of the 40 JME probands, six had visual aura and/or conscious head version; five of these were photosensitive. There is overlap between the clusters of clinical features used to diagnose IPOE and JME. Half of the affected individuals in our families with visual aura had myoclonic jerks; the former is characteristic of IPOE and the latter of JME. Importantly, visual aura is not regarded as part of JME, nor myoclonus part of IPOE, but our data emphasize that these symptoms may occur in both disorders. Moreover, two-thirds of individuals with visual aura had spontaneous TCS; the latter feature is not described in IPOE. Additionally, we demonstrate that visual aura and conscious head version are under-recognized features of JME, particularly among photosensitive patients. These findings could be explained by shared genetic determinants underlying IPOE and JME. Understanding the genetic basis of these disorders must account for the striking female predominance, the variable phenotypes associated with photosensitivity and the overlap of clinical features classically regarded as distinguishing focal and generalized syndromes.en
dc.language.isoenen
dc.subject.otherAdolescenten
dc.subject.otherAdulten
dc.subject.otherChilden
dc.subject.otherDiagnosis, Differentialen
dc.subject.otherEpilepsy, Reflex.diagnosis.etiology.geneticsen
dc.subject.otherFemaleen
dc.subject.otherHumansen
dc.subject.otherMaleen
dc.subject.otherMiddle Ageden
dc.subject.otherMyoclonic Epilepsy, Juvenile.diagnosis.geneticsen
dc.subject.otherOccipital Lobeen
dc.subject.otherPedigreeen
dc.subject.otherPhenotypeen
dc.subject.otherPhotic Stimulation.adverse effectsen
dc.titleJuvenile myoclonic epilepsy and idiopathic photosensitive occipital lobe epilepsy: is there overlap?en
dc.typeJournal Articleen
dc.identifier.journaltitleBrainen
dc.identifier.affiliationEpilepsy Research Centre, Level 1, Neurosciences Building, Austin Health, The University of Melbourne, Banksia Street, West Heidelberg, Victoria, 3081 Australiaen
dc.identifier.doi10.1093/brain/awh211en
dc.description.pages1878-86en
dc.relation.urlhttps://pubmed.ncbi.nlm.nih.gov/15201194en
dc.type.austinJournal Articleen
local.name.researcherBerkovic, Samuel F
item.openairetypeJournal Article-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.languageiso639-1en-
item.fulltextWith Fulltext-
item.cerifentitytypePublications-
item.grantfulltextopen-
crisitem.author.deptEpilepsy Research Centre-
crisitem.author.deptNeurology-
crisitem.author.deptEpilepsy Research Centre-
Appears in Collections:Journal articles
Files in This Item:
File Description SizeFormat 
15201194.pdf111.26 kBAdobe PDFThumbnail
View/Open
Show simple item record

Page view(s)

24
checked on Mar 2, 2024

Download(s)

66
checked on Mar 2, 2024

Google ScholarTM

Check


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