Method for identifying compounds useful in the treatment of photosensitive reflex epilepsy

摘要

The present invention relates to a method for diagnosing photosensitive reflex epilepsy in a subject, which comprises the steps of analyzing a biological sample from said subject by i) detecting the presence of a mutation in the Synaptic Vesicle protein 2 A (SV2A) gene leading to an underexpression or absence of expression of said gene, and/or ii) determining the expression level of the SV2A gene, wherein said mutation and/or expression level of the SV2A gene is indicative of photosensitive reflex epilepsy in said subject. The present invention also relates to a method for identifying a compound useful in the treatment of photosensitive reflex epilepsy, the method comprising the steps of a) administering said compound to a non-human photosensitive epileptic animal, preferably a chicken, presenting a mutation of the Synaptic Vesicle protein 2 A (SV2A) gene leading to the underexpression of said gene, b) measuring the responsiveness of said non-human treated animal to Intermittent Light Stimulation (ILS), c) comparing the responsiveness to intermittent light stimulation of said treated animal with the responsiveness of a non-human non treated animal to ILS, d) selecting a compound for which said treated animal presents an absent or diminished photosensitive reflex epileptic phenotype compared to a non treated animal.