Ring chromosome 14 syndrome or R(14). Clinical cases
The article presents cases of epilepsy in 2 patients with a rare hereditary pathology associated with a chromosomal mutation – deletion of chromosome 14. The clinical observations we have described are of professional and scientific interest, as they relate to a rare neurological pathology. Increasing the awareness of doctors about this pathology will facilitate its timely diagnosis and treatment.
Authors
- Л. Б. Новикова (ORCID: https://orcid.org/0000-0001-8469-1635)
- Н. М. Файзуллина (ORCID: https://orcid.org/0000-0001-6152-3460)
- A. P. Akopyan (ORCID: https://orcid.org/0000-0001-8436-5610)
- K. M. Ziultsle (ORCID: https://orcid.org/0000-0002-8552-6233)
Institutions
- Bashkir State Medical University (RU)
Publication Details
- Journal
- Medical alphabet
- Published
- 2025-03-28
- DOI
- https://doi.org/10.33667/2078-5631-2025-2-63-67
- Primary Topic
- Genomic variations and chromosomal abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 0.00