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How genetic testing can contribute to epilepsy management

As sequencing costs decrease and the clinical relevance of genetics increases, genomic data have now entered the everyday clinical practice of epilepsy management. Therefore, specialists should be able to interpret genetic data and use them to make decisions on the treatment of patients, argued Dr Guido Rubboli (University of Copenhagen, Denmark) [1].

Applying genetics may end the diagnostic Odyssey and provide useful prognostic information, Dr Rubboli said, but also help to improve treatment. It allows for choosing treatments that correct specific metabolic defects, to avoid adverse events that can aggravate the pathogenic defect, and to select anti-epileptic drugs (AEDs) that counteract the functional disturbance caused by a gene mutation. Mutations in SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, and SCN9A are responsible for a considerable proportion of cases of drug-resistant epilepsies with childhood onset.

Most epilepsy genes produce a wide range of sei...

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