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Ring chromosome 14 syndrome or R(14). Clinical cases
https://doi.org/10.33667/2078-5631-2025-2-63-67
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.
About the Authors
L. B. Novikova
Bashkir State Medical University
Russian Federation
Russian Federation
Novikova Liliya B., DM Sci (habil.), professor, head of Dept of Neurology and
Neurorehabilitation.
Ufa
N. M. Faizullina
Bashkir State Medical University
Russian Federation
Russian Federation
Faizullina Nailya M., assistant at Dept of Neurology and Neurorehabilitation
Ufa
A. P. Akopian
Bashkir State Medical University
Russian Federation
Russian Federation
Akopian Anahit P., PhD Med, associate professor at Dept of Neurology and
Neurorehabilitation.
Ufa
K. M. Ziultsle
Bashkir State Medical University
Russian Federation
Russian Federation
Ziultsle Karina M., PhD Med, associate professor at Dept. of Neurology and
Neurorehabilitation
Ufa
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Review
For citations:
Novikova L.B., Faizullina N.M., Akopian A.P., Ziultsle K.M. Ring chromosome 14 syndrome or R(14). Clinical cases. Medical alphabet. 2025;(2):63-67. (In Russ.) https://doi.org/10.33667/2078-5631-2025-2-63-67
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