Exploring the Genetic Landscape of Epilepsy With Eyelid Myoclonia: A Comprehensive Review on Clinical Features and Diagnostic Challenges.

Autor: Sulaiman SA; School of Medicine, University of Jordan, Amman, Jordan., Khalaf IB; Jordan University of Science and Technology, Irbid, Jordan., Saeed AE; University of Jordan, Amman, Jordan., Hoshan W; University of Jordan, Amman, Jordan., Hageen AW; Faculty of Medicine, Tanta University, Tanta, Egypt., Motwani J; Liaquat National Hospital and Medical College, Karachi, Pakistan., Goyal A; Department of Internal Medicine, Seth GS Medical College and KEM Hospital, Mumbai, India. Electronic address: amanmgy@gmail.com.
Jazyk: angličtina
Zdroj: Pediatric neurology [Pediatr Neurol] 2024 Sep 23; Vol. 161, pp. 176-181. Date of Electronic Publication: 2024 Sep 23.
DOI: 10.1016/j.pediatrneurol.2024.09.018
Abstrakt: Jeavons syndrome (JS), also known as epilepsy with eyelid myoclonia (EEM), is an idiopathic epileptic syndrome that primarily affects children. JS constitutes a significant portion of idiopathic generalized epilepsies and overall epileptic conditions and is characterized by frequent eyelid myoclonia. JS is often triggered by factors such as eyelid closure and exposure to light, leading to absence seizures with photoparoxysmal responses. Although previous studies indicate that some genes have demonstrated an association with the syndrome, no definitive causative gene has yet been identified. The current review therefore aims to shed emphasis on the potential value genetic testing holds in the context of EEM, as well as the need to investigate potential early diagnosis and management strategies in future research.
Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.
(Copyright © 2024 Elsevier Inc. All rights reserved.)
Databáze: MEDLINE
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