Ring chromosome 14 syndrome
The article presents cases of epilepsy in two patients with a rare hereditary condition associated with a chromosomal mutation-deletion of chromosome 14. The presented clinical cases are of professional and scientific interest, as they relate to a rare neurological condition, with refractory epilepsy as the leading manifestation.
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)
- Ministry of Health (GR)
Publication Details
- Journal
- S S Korsakov Journal of Neurology and Psychiatry
- Published
- 2025-11-21
- DOI
- https://doi.org/10.17116/jnevro202512510296
- Primary Topic
- Genomic variations and chromosomal abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 0.00