Three reasons why exomes are like MRIs – and three reasons why they are not

Exome rounds. How will next-generation sequencing technologies impact on patient care in the future? What role will genetic analyses play in routine health care? Sometimes, the possible role of genetic information is compared to the role of MRI imaging, including the general expertise that is required of clinicians who apply these technologies but are not necessarily dedicated experts in the field. Here are three interesting parallels between exomes and MRI – and three examples how the impact of these technologies differs drastically. Continue reading

Publications of the week: SLC13A5, SNAP25, and JME fMRI endophenotypes

Catching up. It has been a while since we posted a section on the recent publications in the field of epilepsy genetics. We are trying to catch up by briefly discussing three publications that appeared in the last two weeks. Here is what you should know about citrate transporters in epileptic encephalopathy, an STXBP1-interacting protein, and fMRI endophenotypes in Juvenile Myoclonic Epilepsy (JME). Continue reading

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