Advances in genetic developmental and epileptic encephalopathies with movement disorders
- PMID: 40217411
- PMCID: PMC11960234
- DOI: 10.1186/s42494-024-00194-z
Advances in genetic developmental and epileptic encephalopathies with movement disorders
Abstract
Genetic developmental and epileptic encephalopathies (DEE) are often associated with movement disorders. Accurate identification and classification of movement disorders are essential for management of these diseases. In this review, we describe the characteristics of various movement disorders associated with DEE and summarize the distribution of common DEE-related gene mutations reported in previous studies, aiming to provide references for the diagnosis and treatment of these disorders.
Keywords: Developmental and epileptic encephalopathies; Genetic; Movement disorders.
© 2025. The Author(s).
Conflict of interest statement
Declarations. Ethics approval and consent to participate: Ethics approval and consent to participate is not applicable in this study. Consent for publication: Consent for publication is not applicable in this study. Competing interests: All authors declare that there are no competing interests.
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References
-
- McTague A, Howell KB, Cross JH, Kurian MA, Scheffer IE. The genetic landscape of the epileptic encephalopathies of infancy and childhood. Lancet Neurol. 2016;15(3):304–16. - PubMed
-
- Mastrangelo M, Leuzzi V. Genes of early-onset epileptic encephalopathies: from genotype to phenotype. Pediatr Neurol. 2012;46(1):24–31. - PubMed
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