Genetics of Epilepsy Syndromes in Families with Photosensitive Epilepsy

Epilepsy News From: Wednesday, April 17, 2013

In the March 13th issue of the journal Neurology Drs. Taylor, Berkovic and Scheffer from Epilepsy Research Centers and Department of Pediatrics in Melbourne, Australia, present an interesting analysis of assessing the clinical genetics of photosensitive epilepsy. Twenty-nine (29) families were recruited in which at least two family members had idiopathic epilepsy and either clinical or electrical photosensitivity on EEG studies. Analyses of the clinical characteristics were then performed for all family members.

The investigators found that an earlier age of seizure onset was observed in photosensitive patients compared to non-photosensitive individuals. There was a significant female bias for photosensitivity. Subjects were classified into three main categories: idiopathic generalized epilepsy, idiopathic photosensitive occipital epilepsy, and mixed generalized and partial epilepsy. Within each category, subjects with purely photosensitive seizures were observed. The researchers found a distinctive syndrome of early onset photosensitive absence epilepsy with an onset beginning by four years of age which was more difficult to control than child absence epilepsy.

The trialists found that the clinical genetics of idiopathic photosensitive epilepsies showed a phenotypic spectrum—range of clinical symptoms ranging from generalized idiopathic partial occipital epilepsy with an overlap between the focal features of these syndromes. Shared genetic determinants are likely to contribute to the complex pattern of photosensitivity.

Why is this important?

This study further explores how epilepsy presents in the setting of a complicated genetic inheritance. It also helps to further clarify the fact that photosensitive epilepsy can actually be both partial and/or generalized or an overlap.

Authored by

Joseph I. Sirven MD

Reviewed Date

Wednesday, March 19, 2014

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