Zespoły epilepsji z zaburzeniami ruchu: genetyczne epilepsje i choroby ruchu

Epilepsy-dyskinesia syndromes cover a broad spectrum of neurogenetic disorders defined by the co-occurrence of epileptic and movement disorder phenotypes. Advances in next-generation sequencing have demonstrated more than 100 causative genes converging on shared molecular pathways regulating neuronal excitability, synaptic transmission, and neurodevelopment. Despite their clinical relevance, movement disorders in these conditions remain underrecognized and incompletely characterized. This review integrates recent clinical and molecular evidence to delineate the landscape of genetic epilepsy-dyskinesia syndromes, highlighting key mechanisms, including ion channel dysfunction, G-protein-coupled signaling, transcriptional regulation, synaptic vesicle cycling, and autophagy pathways, that underlie combined epilepsy-movement disorder phenotypes. We synthesize current knowledge of genotype-phenotype correlations, emphasizing phenotypic pleiotropy and recurrent variant hot spots that modulate disease severity and dominant movement phenomenology. Building on this framework, we propose complementary categorical and phenomenology-based classification systems to guide diagnosis and management. Finally, we discuss therapeutic implications, ranging from conventional pharmacological approaches and deep brain stimulation to emerging gene-directed and RNA-based precision therapies. Recognizing epilepsy-dyskinesia syndromes as a unified nosological spectrum provides a foundation for mechanistic understanding, improved diagnostic accuracy, and the development of targeted interventions addressing both seizures and movement disorders. © 2026 International Parkinson and Movement Disorder Society.