Please use this identifier to cite or link to this item:
Full metadata record
DC FieldValueLanguage
dc.contributor.authorTaylor, Isabellaen
dc.contributor.authorBerkovic, Samuel Fen
dc.contributor.authorScheffer, Ingrid Een
dc.identifier.citationNeurology 2013; 80(14): 1322-9en
dc.description.abstractTo use family studies to investigate the clinical genetics of photosensitivity to understand the interrelationship of different photosensitive epilepsy syndromes.Twenty-nine families were recruited in which at least 2 members had idiopathic epilepsy and either clinical or electrical photosensitivity on EEG studies. We performed electroclinical analysis of these individuals and all other affected family members and analyzed the phenotypic patterns in families.An earlier age at seizure onset was observed in photosensitive patients compared with nonphotosensitive individuals. A significant female bias for photosensitivity was confirmed. All subjects with visual seizures were photosensitive. Subjects could be classified into 3 main photosensitive phenotypes: genetic (idiopathic) generalized epilepsies (GGE), idiopathic photosensitive occipital epilepsy (IPOE), and mixed GGE/IPOE. Within each category, subjects with purely photosensitive seizures were observed. We report a distinctive syndrome of early-onset photosensitive absence epilepsy, with onset beginning by 4 years of age, which was more refractory than childhood absence epilepsy.The clinical genetics of the idiopathic photosensitive epilepsies show a phenotypic spectrum from the GGEs to IPOE with overlap between the focal features of IPOE and all the GGE syndromes. Shared genetic determinants are likely to contribute to the complex inheritance pattern of photosensitivity, IPOE, and the GGEs.en
dc.subject.otherAge of Onseten
dc.subject.otherEpilepsies, Partial.etiology.geneticsen
dc.subject.otherEpilepsy, Absence.etiology.geneticsen
dc.subject.otherEpilepsy, Reflex.classification.diagnosis.geneticsen
dc.subject.otherFamily Healthen
dc.subject.otherPhotic Stimulation.adverse effectsen
dc.subject.otherSex Factorsen
dc.titleGenetics of epilepsy syndromes in families with photosensitivity.en
dc.typeJournal Articleen
dc.identifier.affiliationEpilepsy Research Centre and Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, Australiaen
Appears in Collections:Journal articles

Files in This Item:
There are no files associated with this item.

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