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Movement Disorders in Patients With Genetic Developmental and Epileptic Encephalopathies.
Sterre van der Veen1, Gabrielle T W Tse1, Alessandro Ferretti1
1From the University Medical Center Groningen (S.v.d.V.), the Netherlands; Austin Health (G.T.W.T.), Melbourne, Australia; Bambino Gesù Children's Hospital (A.F., M.T.); Bambino Gesù Children's Hospital (G.G.), Tor Vergata University, Rome, Italy; Radboud UMC (B.P.), Nijmegen, the Netherlands; Ospedale Pediatrico Bambino Gesù (N.S.), Rome, Italy; Westmead Hospital (V.S.C.F.); and University of Melbourne, Austin Health and Royal Children's Hospital (I.E.S.), Australia.
Movement disorders are often missed in developmental and epileptic encephalopathies (DEEs). Identifying specific movement disorder patterns linked to genetic causes aids early diagnosis and management of these rare diseases.
Area of Science:
- Neurology
- Genetics
- Developmental Biology
Background:
- Movement disorders (MDs) are frequently underrecognized in patients with developmental and epileptic encephalopathies (DEEs).
- Over 800 genes are linked to DEEs, but few are associated with MDs.
- Understanding the relationship between genetic DEEs and MDs is crucial for patient care.
Purpose of the Study:
- To identify and classify movement disorders in patients with genetic DEEs.
- To analyze correlations between specific MD patterns and underlying genetic mechanisms.
- To improve diagnosis and management strategies for DEEs with MDs.
Main Methods:
- A large international cohort of 77 patients with genetic DEEs was analyzed.
- Movement disorders were classified based on type and onset.
- Genetic mechanisms were correlated with observed MD patterns.
Main Results:
- Stereotypies (48%) and dystonia (44%) were the most common MDs observed.
- Dystonia was more frequent in nonambulatory patients; ataxia was less frequent.
- Specific MDs correlated with genetic defects: dystonia with channelopathies/synaptic defects, stereotypies with transcriptional defects.
Conclusions:
- Movement disorders are common and diverse in genetic DEEs.
- Recognizing MD patterns associated with specific genetic defects can inform diagnosis and management.
- Distinguishing MDs from seizures is vital for effective treatment of these complex neurological conditions.
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