Previously defined variants of uncertain significance may play an important role in epilepsy and interactions between certain variants may become pathogenic
We have performed a retrospective analysis on a subpopulation of pediatric patients diagnosed with epilepsy. We found that specific genetic variants were repeatable, indicating their potential pathogenicity to the disease.
Authors
- Yara Hussein (ORCID: https://orcid.org/0000-0001-6173-8584)
- Hila Weisblum‐Neuman
- Bruria Ben Zeev (ORCID: https://orcid.org/0000-0001-6347-2089)
- Shani Stern (ORCID: https://orcid.org/0000-0002-2644-7068)
Institutions
- Tel Aviv University (IL)
- Sheba Medical Center (IL)
- Edmond and Lily Safra Children's Hospital (IL)
- University of Haifa (IL)
Publication Details
- Journal
- Epilepsia Open
- Published
- 2024-11-07
- DOI
- https://doi.org/10.1002/epi4.13085
- Citations
- 1
- Primary Topic
- Epilepsy research and treatment
- Type
- article
- Field-Weighted Citation Impact
- 0.39
Funders
- Israel Science Foundation