Seizures induced by visual stimulation (photosensitive epilepsy; PSE) represent a common type of epilepsy in humans, but the molecular mechanisms and genetic drivers underlying PSE remain unknown, and no good genetic animal models have been identified as yet. Here, we show an animal model of PSE, in Drosophila, owing to defective cortex glia. The cortex glial membranes are severely compromised in ceramide phosphoethanolamine synthase (cpes)-null mutants and fail to encapsulate the neuronal cell bodies in the Drosophila neuronal cortex. Expression of human sphingomyelin synthase 1, which synthesizes the closely related ceramide phosphocholine (sphingomyelin), rescues the cortex glial abnormalities and PSE, underscoring the evolutionarily conserved role of these lipids in glial membranes. Further, we show the compromise in plasma membrane structure that underlies the glial cell membrane collapse in cpes mutants and leads to the PSE phenotype.

视觉刺激引起的癫痫发作（光敏性癫痫；PSE）是人类常见的癫痫类型，但 PSE 的分子机制和遗传驱动因素仍不清楚，并且尚未确定良好的遗传动物模型。在这里，我们展示了果蝇中 PSE 的动物模型，该模型是由于皮层神经胶质细胞缺陷所致。在神经酰胺磷酸乙醇胺合酶（ cpes ）无效突变体中，皮质胶质膜严重受损，并且无法封装果蝇神经元皮质中的神经元细胞体。人鞘磷脂合酶 1 的表达可合成密切相关的神经酰胺磷酸胆碱（鞘磷脂），可挽救皮质神经胶质异常和 PSE，强调这些脂质在神经胶质膜中的进化保守作用。此外，我们还发现质膜结构的妥协是cpes突变体中神经胶质细胞膜塌陷的基础，并导致 PSE 表型。