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Movement Disorders in Developmental and Epileptic Encephalopathies.
Shekeeb Mohammad1,2, Darius Ebrahimi-Fakhari3, Hugo Morales-Briceno1,4
1Faculty of Medicine and Health, Sydney Medical School, The University of Sydney, Sydney, NSW, Australia.
Movement Disorders Clinical Practice
|May 2, 2026
Summary
Movement disorders are common in developmental and epileptic encephalopathies (DEE), often presenting as hyperkinetic symptoms. A syndrome-based approach using genetic testing guides management for these complex epilepsy-dyskinesia syndromes (EDS).
Area of Science:
- Neurogenetics
- Epileptology
- Movement Disorders
Background:
- Monogenic developmental and epileptic encephalopathies (DEE) frequently involve co-occurring movement disorders.
- Gene discovery has expanded epilepsy-dyskinesia syndromes (EDS), linking genes to specific phenotypes like stereotypies or paroxysmal dyskinesia.
Purpose of the Study:
- Outline the spectrum of movement disorders in EDS.
- Propose a clinical framework for EDS based on syndromes.
- Group genes by mechanism and highlight genotype-phenotype correlations.
- Summarize therapeutic options for EDS.
Main Methods:
- Conducted a structured literature review of monogenic disorders associated with EDS.
- Grouped publications into four tiers based on study type.
- Identified 245 single-gene associations, primarily related to ion channels and synaptic signaling.
Main Results:
- Movement disorders affect 25-50% of DEE patients, often hyperkinetic (dystonia, stereotypies) and multifactorial.
- Clinical presentations were categorized into distinct EDS phenotypes.
- Treatments involve gene- and mechanism-informed strategies, including medications and deep brain stimulation.
Conclusions:
- Movement disorders are prevalent, severe, and genetically diverse in EDS.
- A syndrome-based approach combining clinical data, neuroimaging, and genetic testing is crucial.
- This approach aids in managing symptoms and implementing precision therapies for EDS.
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