New gene therapy could significantly reduce seizures in severe childhood epilepsy

UCL researchers have developed a brand new gene remedy to remedy a devastating type of childhood epilepsy, which a brand new examine reveals can considerably scale back seizures in mice.

The examine, revealed in Mind, sought to search out a substitute for surgical procedure for kids with focal cortical dysplasia.

Focal cortical dysplasia is attributable to areas of the brain which have developed abnormally and is among the many most typical causes of drug-resistant epilepsy in youngsters. It steadily happens within the frontal lobes, that are vital for planning and decision-making. Epilepsy in focal cortical dysplasia is related to comorbidities, together with studying disabilities.

Though surgical procedure to take away the affected mind malformation is efficient, its use is severely restricted by the danger of everlasting neurological deficit and doesn’t at all times lead to seizure freedom.

Consequently, researchers on the UCL Queen Sq. Institute of Neurology evaluated a gene therapy primarily based on the overexpression of a potassium channel that regulates neuronal excitability in a mouse mannequin of focal cortical dysplasia within the frontal lobe.

Potassium channels management the motion of potassium ions out and in of cells. When there’s an overexpression of a potassium channel, it means that there’s higher regulation, ensuing within the lower of the exercise of cells and, in flip, stopping seizures.

Co-corresponding writer Professor Gabriele Lignani (UCL Queen Sq. Institute of Neurology), stated, “It is vitally thrilling to see that this new gene remedy might doubtlessly be used as an efficient various to surgical procedure in sufferers with focal cortical dysplasia.”

Gene therapies have beforehand been proven to work in one other type of epilepsy the place seizures come up within the temporal lobes however haven’t been examined in focal cortical dysplasia.

On this case, the researchers launched an engineered potassium channel gene known as EKC into the affected frontal lobe of the epileptic mice. For added security, they used a virus that’s unable to duplicate so as to carry the potassium channel gene.

Earlier than giving the therapy, researchers monitored the mice’s mind exercise for 15 days. They then injected both the virus carrying the EKC gene or a management virus into the affected mind space. The group then monitored the mice’s mind exercise for one more 15 days.

The researchers discovered that gene remedy lowered seizures by a median of 87% in comparison with the control group, with out affecting the mouse’s reminiscence or conduct.

Lead writer Dr. Vincent Magloire (UCL Queen Sq. Institute of Neurology) stated, “Following the profitable examine in mice, we consider the therapy is appropriate for scientific translation, and, considering the scale of the unmet want, it might be deployed to hundreds of youngsters who’re presently severely affected by uncontrolled seizures.”

Co-corresponding writer Professor Dimitri Kullmann (UCL Queen Sq. Institute of Neurology) added, “Plans for a primary in human scientific trial are underway and are deliberate within the subsequent 5 years.”