Genetics of drug-resistant epilepsy: New findings could change treatment for the disease
New research has shown that some common genetic changes may make people with focal epilepsy less responsive to anti-epileptic drugs. The study, led by scientists from UCL and UTHealth Houston, shows that the genes CNIH3 and WDR26 may increase the risk of drug resistance. The discovery opens up new possibilities for treating patients with the condition.
Studies have shown that the CNIH3 and WDR26 genes are associated with a higher risk of drug resistance in focal epilepsy . Scientists have discovered that these specific genetic changes can affect how the body responds to antiepileptic drugs . The study was based on data from two large international projects – EpiPGX and Epi25 – which allowed us to examine the genomes of 6,826 people with epilepsy .
Drug-resistant epilepsy is a condition in which traditional anticonvulsants do not work and the patient continues to suffer from seizures. There are about 20 million people in the world with this form of epilepsy. This leads to serious health consequences , including a higher risk of sudden death and significantly higher medical costs . Studies have shown that by identifying appropriate genetic variants , it will be possible to predict who is more likely to develop drug resistance.
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According to Prof. Sanjay Sisodiya , senior author of the study, these findings could change the way epilepsy is treated:
Further research could enable doctors to predict who will have a problem with drug resistance and allow for the development of new treatments , he said.
Recognizing relevant genetic variants at the onset of the disease may make it possible to avoid ineffective therapies and their side effects .
Polygenic epilepsy , the treatment of which may be greatly improved by new genetic discoveries , accounts for the majority of cases of genetic epilepsy .
“The identification of common genetic variants that occur frequently in the population and have a profound impact on treatment outcomes underscores the need to expand genetic testing,” said assistant professor Costin Leu , first author of the study.
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