Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes.

Abstract

Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self-limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities. Advances in genetic research over the past decade have uncovered novel mechanisms underlying these disorders, including single-gene mutations, copy number variations (CNVs), and non-coding repeat expansions. These findings not only deepen our understanding of their pathophysiology but also highlight potential avenues for precision medicine. This review provides a comprehensive overview of myoclonic epilepsies linked to pathogenic gene variants, exploring genetic mechanisms and discussing their clinical implications. PLAIN LANGUAGE SUMMARY: In this work, we describe genetic epilepsies mainly characterized by myoclonic seizures, their genetic defects and disease mechanisms, and considerations of precision medicine treatment.