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How genetic testing can contribute to epilepsy management

Presented By
Dr Guido Rubboli, University of Copenhagen, Denmark
Conference
EAN 2020
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 treatment decisions, argued Dr Guido Rubboli (University of Copenhagen, Denmark) [1]. Applying genetics may contribute to prognosis and 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 drug-resistant epilepsy cases with childhood onset. Phenotypic variability can be associated with a single gene and even a single variant. Detailed (“de...


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