The BRAF p.Val600Glu mutation (BRAFV600E) promotes epileptogenic properties in neuronal cells in paediatric brain tumours, new research has shown. Treatment-refractory seizures are a common symptom of paediatric brain tumours, but the causes of this epilepsy are unknown. In the new study, researchers developed a mouse model that expressed the BrafV600E mutation in early brain development. The mutation elicited tumorigenic properties in glial cells but epileptogenic properties in neuronal cells. Analysis of brain samples from patients with the mutation revealed increased levels of REST, an epilepsy-associated transcription factor. Interestingly, the team also found that they could alleviate seizures in their mouse model via treatment with the BRAFV600E inhibitor vemurafenib or via genetic inhibition of Rest. These results suggest that BRAF and REST are potential targets for new treatments of epilepsy in paediatric brain tumours.
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Koh, H. Y. et al. BRAF somatic mutation contributes to intrinsic epileptogenicity in pediatric brain tumors. Nat. Med. https://doi.org/10.1038/s41591-018-0172-x (2018)
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Ridler, C. BRAF mutation promotes epilepsy in paediatric brain tumours. Nat Rev Neurol 14, 632 (2018). https://doi.org/10.1038/s41582-018-0087-7
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DOI: https://doi.org/10.1038/s41582-018-0087-7