Abstract
The increasing identification of genetic causes for epilepsy over the recent years improves the understanding of the underlying epileptog enic process, and allows for the possibility of directed therapeutic approaches. An ideal antiepileptic therapy consists of a drug which is able to influence the functional changes caused by a specific pathogenic variant. In this review, we describe the current precise medicine approaches in genetic epilepsies. Currently established or investigated precise medicine treatments include the ketogenic diet in patients with glucose transporter type1 (GLUT1) deficiency, sodium channel blockers in patients with KCNQ2 mutations, and mechanistic target of rapamycin (mTOR)-inhibitors in patients with SCN2A and SCN8A mutations. These predominantly represent already available treatments that were repurposed for use in epilepsy. The development of new therapeutic agents aiming at targets identified in genetic epilepsies will advance epilepsy treatment considerably. Key words: Epilepsy/DT/GE; Review
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