Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2025 Feb 3;7(1):9.
doi: 10.1186/s42494-024-00194-z.

Advances in genetic developmental and epileptic encephalopathies with movement disorders

Affiliations
Review

Advances in genetic developmental and epileptic encephalopathies with movement disorders

Meng Yuan et al. Acta Epileptol. .

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.

PubMed Disclaimer

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.

Figures

Fig. 1
Fig. 1
Co-occurrence analysis of genetic DEE and movement disorders related keywords by VOSviewer. The various circles represent different genes or phenotypes, with larger circles indicating a higher frequency of occurrence. The lines connecting the circles indicate the existence of associations, with thicker lines representing stronger association

Similar articles

Cited by

References

    1. Scheffer IE, Berkovic S, Capovilla G, Connolly MB, French J, Guilhoto L, et al. ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology. Epilepsia. 2017;58(4):512–21. - PMC - PubMed
    1. 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
    1. Mastrangelo M, Leuzzi V. Genes of early-onset epileptic encephalopathies: from genotype to phenotype. Pediatr Neurol. 2012;46(1):24–31. - PubMed
    1. McTague A, Appleton R, Avula S, Cross JH, King MD, Jacques TS, et al. Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum. Brain. 2013;136(Pt 5):1578–91. - PMC - PubMed
    1. Scheffer IE, Bennett CA, Gill D, de Silva MG, Boggs K, Marum J, et al. Exome sequencing for patients with developmental and epileptic encephalopathies in clinical practice. Dev Med Child Neurol. 2023;65(1):50–7. - PMC - PubMed

LinkOut - more resources