Sometimes they are just brief moments – tiny muscle twitches, a stare into nothingness.
And there are severe episodes: convulsions that shake the body, fainting, fear, confusion. Epilepsy comes out of the blue. It takes control of your life from one moment to the next. The insidiousness of the disease: it cannot always be treated.
The Disease
This also applies to a particularly severe and rare form in which mutations in the so-called KCNA2 gene lead to disorders in the brain’s potassium metabolism. There are currently only around 60 known cases worldwide. Even in infancy, those affected develop mental retardation and suffer severe seizures every day. Many are unable to walk without help. A self-determined life? Hardly possible. At least that was the case until a few years ago.
The Research
A team of neuroscientists and doctors led by biologist Dr. Ulrike Hedrich-Klimosch from the Hertie Institute for Clinical Brain Research in Tübingen has fundamentally changed the prognosis for patients with epilepsy. The researchers identified the triggers of the rare form of epilepsy and discovered that patients with a certain subtype of the disease benefit from a drug that has long been available: An active ingredient that is used to treat multiple sclerosis. With the award money from the Eva Luise and Horst Köhler Foundation, the researchers were able to expand their studies and make the drug available to patients worldwide. It is now being used in eleven patients – with great success: the majority of young patients can walk better, have less mental retardation and suffer fewer seizures. It is important to start the therapy as early as possible. To ensure this, the research team has created a freely accessible database in which the various mutations from the KCNA gene family are listed. This allows doctors to quickly decide which cases are eligible for treatment.
