Gene mutation for common childhood epilepsy discovered with the help of CeGaT’s Epilepsy panel.
More than 50 million people worldwide have epilepsy, a third of whom are children. The most common forms of epilepsy in children occur without apparent cause and affect only certain brain regions. They are called idiopathic focal epilepsy (IFE). Characteristic of this disease is a seizure origin in the so-called Rolandic region of the brain. Now it is possible to identify the first disease gene for idiopathic focal epilepsies. It involves the gene GRIN2A. Changes in the gene lead to disturbances in the function of an important ion channel in the brain that affects the electrical excitability of nerve cells. This can explain the increased electrical discharges in the brain and thus the occurrence of epileptic seizures. The study has been published in the international journal Nature Genetics.