Can Genetics Improve Pediatric Epilepsy Treatments?

doctor talking to mother and daughterSometimes the best treatment of epilepsy in children can be difficult to get right the first time. While many epileptic children respond to the treatments their doctor advises, some cases of epilepsy remain stubbornly resistant to treatment.

A recent study of children with childhood absence epilepsy (CAE) has isolated different variants of genes associated with CAE that make a child resistant to drug therapy. Researchers say that incorporating genetic testing with a precision medicine approach will allow doctors to predict the effectiveness of drugs used for the treatment of epilepsy in children.

How Can Genetic Testing Help?

The study, funded by the National Institute of Neurological Disorders and Stroke and published in the Annals of Neurology, suggested the potential for using a precision medicine approach to help predict which antiepileptic drugs will be most effective in treating CAE.

If a genetic disorder is suspected as the cause of treatment-resistant epilepsy, appropriate genetic tests can lead to a better-targeted treatment of epilepsy in children with CAE.

The National Institutes of Health calls precision medicine “an emerging approach for disease treatment and prevention that takes into account individual variability in genes, environment, and lifestyle for each person.”

How Does Genetic Testing Work?

In this study, randomized and controlled data of 446 children with childhood absence epilepsy compared in their genetic makeup to the efficacy of three common antiepileptic drug therapies ethosuximide, valproic acid, and lamotrigine. Additional laboratory experimentation was also conducted.

The researchers found that different forms of T-type calcium channels, which are genes associated with CAE, could predict a child’s response to one of the three drugs. Among the laboratory findings were that one genetic variant caused a change in how a key calcium channel responded to ethosuximide, which also confirmed the results of the clinical trial.