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Molecular and Clinical Spectrum of Epilepsy-Dyskinesia Syndromes: A Cross-Sectional Study of 609 Patients
Epilepsy-dyskinesia syndromes (EDS) represent a clinically complex group of neurogenetic disorders defined by overlapping seizure activity and movement disorders
This multinational cross-sectional study characterized 609 pediatric patients with childhood-onset movement disorders and pathogenic variants across 105 predefined genes.
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Pathogenic variants were identified in 74 genes, and 12 genes accounted for two-thirds of cases.
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Dystonia, stereotypies, and ataxia were the most common movement disorders, and most patients had mixed movement disorder presentations.
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Epilepsy was present in approximately two-thirds of patients, while developmental outcomes and medication responses varied by genetic etiology and pathway.
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The study confirmed carbamazepine responsiveness in PRRT2-related disease and reported worsening motor symptoms with levodopa/carbidopa in GNAO1 and MECP2 variants.
