Scientists from Cologne explore a new approach to prevent new-born epilepsies

Specific forms of epilepsy may manifest as early as in the first weeks of life. A new laboratory study shows that a preventive therapeutic strategy can be successful if it is applied within a time window critical to brain development. The study, which was conducted by a team of German and French scientists and headed by Prof. Dirk Isbrandt of the German Center for Neurodegenerative Diseases (DZNE) and the University of Cologne. Using the substance bumetanide in new-born mice, the scientists succeeded in attenuating the disease progression, allowing the animals to develop almost normally. These research results could pave the way for the development of new therapeutic strategies in humans.

Isbrandt and his colleagues conducted experiments in mice with a genetic defect similar to a natural human variant that can cause epilepsy as early as the neonatal period. This mutation results in dysfunctional ion channels in the membranes of nerve cells, thus perturbing the communication between cells. Possible symptoms include jerking or twitching movements, but can also include more subtle behavioural impairments. Early disease symptoms can be mild, but long-term outcomes may be severe, and include pronounced cognitive impairment.

‘This genetic defect has an impact on a specific ion channel in the cell membrane, the so-called Kv7 or M channel. The defect disturbs the ionic balance, which has a direct effect on the excitability of neurons