Year: 2025
Type: article
Study design: Case Report
Abstract: 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.
Source: Medical alphabet
Institution: Bashkir State Medical University
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: hybrid
OpenAlex ID: W4408970076