Sometimes it's just brief moments - tiny muscle twitches, a glance into space.
And there are severe episodes: convulsions that shake the body, fainting, fear, confusion. Epilepsy comes out of the ambush. It takes control of life from one moment to the next. The problem of the disease: it can't always be treated.
Das gilt auch für eine besonders schwere und seltene Form, bei der Mutationen im sogenannten KCNA2-Gen zu Störungen im Kaliumstoffwechsel des Gehirns führen. Derzeit sind nur rund 60 Fälle weltweit bekannt. Bereits im Kleinkindalter entwickeln sich Betroffene geistig verzögert und erleiden täglich schwere Anfälle. Viele können ohne Hilfe nicht laufen. Ein selbstbestimmtes Leben? Kaum möglich. Zumindest galt das bis vor ein paar Jahren.
A team of neuroscientists and physicians led by biologist Dr. Ulrike Hedrich-Klimosch from the Hertie Institute for Clinical Brain Research in Tübingen, Germany, has fundamentally changed the prognosis for the patients. The researchers identified the triggers of the rare form of epilepsy and found that patients suffering from a specific subtype of the disease benefited from a drug that has long been available: A compound used to treat multiple sclerosis. With the money awarded 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 the young patients can walk better, their mental development is less delayed and they suffer fewer seizures. Crucial is that the therapy has to begin as early as possible. To ensure this, the research team has created a freely accessible database that lists the various mutations in the KCNA gene family. This allows physicians to quickly decide in which cases a therapy can be considered.
The next step is to release the drug for standard therapy of this particular early childhood epilepsy, because it is not yet accessible to all patients. To achieve this, further clinical research is needed - a large-scale controlled trial is planned. "We hope to learn more about how the drug works," explains Dr. Ulrike Hedrich-Klimosch. The goal remains clear: to enable people with this severe form of epilepsy to live a life as free of symptoms as possible.