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EAN 2023 | How genetic modifiers influence clinical characteristics in epilepsy

Simona Balestrini, MD, PhD, from University College London, UK, talks about the move away from the monogenic concept of epilepsy towards a more holistic approach to diagnosis which incorporates the whole genome. The complex background of each individual case of epilepsy means that in order to fully understand the phenotype of patients, we can’t stop at the identification of a single monogenic mutation. Dr Balestrini discusses the importance of examining whole genome characteristics which could affect phenotypic presentation, such as comorbidities, gene modifiers, and more general genome regulation which could help clinicians to develop more personal treatments for epilepsy. Recorded at the 9th Congress of the European Academy of Neurology (EAN) 2023 held in Budapest, Hungary.

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