Real-life survey of pitfalls and successes of precision medicine in genetic epilepsies.
Simona BalestriniDaniela ChiarelloMaria GogouKatri SilvennoinenClinda PuvirajasingheWendy D JonesPhilipp ReifKarl Martin KleinFelix RosenowYvonne G WeberHolger LercheSusanne Schubert-BastIngo BorggraefeAntonietta CoppolaSerena TroisiRikke S MøllerAntonella RivaPasquale StrianoFederico ZaraCheryl HemingwayCarla MariniAnna RosatiDavide MeiMartino MontomoliRenzo GuerriniJ Helen CrossSanjay M SisodiyaPublished in: Journal of neurology, neurosurgery, and psychiatry (2021)
Our survey of clinical practice in specialised epilepsy centres shows high variability of clinical outcomes following the identification of a genetic cause for an epilepsy. Meaningful change in the treatment paradigm after genetic testing is not yet possible for many people with epilepsy. This systematic survey provides an overview of the current application of precision medicine in the epilepsies, and suggests the adoption of a more considered approach.