Epilepsy: using genetic testing to find the right drug

Christiane Fux studied journalism and psychology in Hamburg. The experienced medical editor has been writing magazine articles, news and factual texts on all conceivable health topics since 2001. In addition to her work for, Christiane Fux is also active in prose. Her first crime novel was published in 2012, and she also writes, designs and publishes her own crime plays.

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MunichEpilepsy can have various causes. The treatment is almost as varied: what helps one does not work at all for others. The grueling search for the right drug may soon be shortened using genetic testing. There are already initial successes.

Around 600,000 people in Germany suffer from epilepsy. In about two thirds of patients, drugs work very well - people live without seizures. "With the others, the search for the right therapy takes longer or doesn't work at all," says Prof. Holger Lerche from the University of Tübingen.

Some patients continue to have epileptic seizures. Others suffer from side effects of the medication, such as tiredness, dizziness, tremors, or hair loss. Up to now, it has hardly been possible to predict whether a drug will work well or not. Then all you have to do is try it out - sometimes for years.

Predict effectiveness

Researchers hope to be able to help these patients with genetic analyzes. Because about half of epilepsies are genetic. We already know more than 300 genes that cause seizures. "In some severe forms of epilepsy, we can already use genetic analysis to predict the likely effectiveness of certain drugs," said Lerche at the annual meeting of the German Society for Clinical Neurophysiology and Functional Imaging (DGKN).

Heart medication for seizures

In some children, a mutation triggers severe epileptic seizures, which affects the potassium channels in the cell membranes. Among other things, this disrupts the function of the nerve cells.In this case, in addition to anti-epileptic drugs, active ingredients that are otherwise used for completely different diseases and which partially correct the effects of the genetic defect help. This includes, for example, quinidine, which is otherwise prescribed for cardiac arrhythmias.

Fatty foods help some people

In other small epilepsy patients, the transport of sugar across the blood-brain barrier is disturbed. You do not need medication, a high-fat diet helps. "In this form, it largely prevents the seizures and often improves the children's mental development, which is usually disturbed," explains epilepsy expert Lerche.

So far, genetic analysis has mainly been used to help patients whose epilepsy is caused by a single gene. That should change in the future. As part of an EU project in which the Tübingen scientists are also involved, European experts are researching how genetic analysis can also be used to predict the effectiveness of epilepsy drugs for patients whose seizures are triggered by the interaction of several defective genes.

Malfunction with many causes

Epilepsy is a malfunction of the brain. During a seizure, nerve cells suddenly fire synchronous impulses and discharge themselves. In addition to genetic causes, epilepsy can also be caused by malformations of the brain, brain damage from pregnancy or childbirth complications, strokes, brain tumors, inflammation of the brain or poisoning. (cf)

Source:

Press release of the Working Group of the Scientific Medical Societies on the DGKN press conference, March 19, 2015

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