Genetic imaging in Dravet Syndrome – variation on a theme?

Networks in the brain. While I am waiting to hear back about my ERC starting grant application on genetic imaging, I wanted to use the waiting time to introduce a small pioneer study that we performed on functional imaging in Dravet Syndrome. Dravet Syndrome, one of the most prominent genetic epileptic encephalopathies, is due to mutations in SCN1A. The EEG findings progress from an initially unremarkable EEG to frequent generalized activity. Functional MRI offers a possibility to investigate the network underlying these discharges and to pinpoint brain regions involved in generating the epileptiform activity. Given that patients have a common genetic finding, the assumption that discharges are generated by identical networks is intriguing. However, we found that things might not be as simple as that. Continue reading