ACMG: American College of Medical Genetics and Genomics; VUS: variant of uncertain significance; EEG: electroencephalogram. * All genomic coordinates are based on the GRCh37/hg19 human genome build.
Declarations
Acknowledgments
The authors are deeply grateful to the patients and their families for their consent and participation in this study. We acknowledge the clinical and administrative staff of the ELSGNMD at Benghazi Medical Center for their support. We also thank the laboratory team at Bioscientia International for their genetic analysis services. During the preparation of this work, the authors used DeepSeek to improve the language and readability of the manuscript. After using DeepSeek, the authors reviewed and edited the content as needed, and they take full responsibility for the content of the publication.
Author contributions
AMB: Conceptualization, Investigation, Writing—original draft, Writing—review & editing. AMR: Conceptualization, Writing—review & editing. HAEZ: Validation, Supervision. All authors read and approved the submitted version.
Conflicts of interest
The authors declare that they have no conflicts of interest.
Ethical approval
The study was approved by the Research Ethics Board of Benghazi Medical Center (Approval Number: NBC: 005. H. 25.14) and was conducted in compliance with the 2024 principles of the Declaration of Helsinki.
Consent to participate
Informed consent to participate in the study was obtained from the patients and their guardians.
Consent to publication
Not applicable.
Availability of data and materials
All relevant data is contained within the manuscript.
Open Exploration maintains a neutral stance on jurisdictional claims in published institutional affiliations and maps. All opinions expressed in this article are the personal views of the author(s) and do not represent the stance of the editorial team or the publisher.
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