Epileptic Encephalopathy Related to CAD Deleterious Variants—A Case Series
Our findings underscore the potential for improved outcomes of EIEE-50 trought timely diagnosis and targeted treatment strategies, reinforcing the role of uridine supplementation as a promising therapeutic approach.
Authors
- Magdalena Budișteanu
- Ina Ofelia Focșa (ORCID: https://orcid.org/0000-0002-9528-9083)
- Florentina Ionela Lincă (ORCID: https://orcid.org/0000-0002-1697-9132)
- Diana Bârcă (ORCID: https://orcid.org/0000-0001-6223-6383)
- Adelina Glangher
- Doina Ioana
- Catrinel Iliescu
- Laurentiu-Camil Bohîlțea
- Dana Șurlică
Institutions
- Titu Maiorescu University (RO)
- University of Bucharest (RO)
- Carol Davila University of Medicine and Pharmacy (RO)
- Clinical Emergency Hospital Bucharest (RO)
- Institutul National Victor Babes (RO)
Publication Details
- Journal
- Diseases
- Published
- 2025-03-22
- DOI
- https://doi.org/10.3390/diseases13040091
- Citations
- 1
- Primary Topic
- Biochemical and Molecular Research
- Type
- article
- Field-Weighted Citation Impact
- 0.81