Please use this identifier to cite or link to this item: http://ahro.austin.org.au/austinjspui/handle/1/11703
Title: Genetics of epilepsy syndromes in families with photosensitivity.
Authors: Taylor, Isabella;Berkovic, Samuel F;Scheffer, Ingrid E
Affiliation: Epilepsy Research Centre and Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, Australia
Issue Date: 13-Mar-2013
Citation: Neurology 2013; 80(14): 1322-9
Abstract: To 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.
Internal ID Number: 23486866
URI: http://ahro.austin.org.au/austinjspui/handle/1/11703
DOI: 10.1212/WNL.0b013e31828ab349
URL: http://www.ncbi.nlm.nih.gov/pubmed/23486866
Type: Journal Article
Subjects: Age of Onset
Electroencephalography
Epilepsies, Partial.etiology.genetics
Epilepsy, Absence.etiology.genetics
Epilepsy, Reflex.classification.diagnosis.genetics
Family Health
Female
Humans
Male
Phenotype
Photic Stimulation.adverse effects
Sex Factors
Syndrome
Appears in Collections:Journal articles

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