Ring chromosome 14 syndrome

Novikova L.B.; Fayzullina N.M.; Akopyan A.P.; Ziultsle K.M.

doi:https://doi.org/10.17116/jnevro202512510296

Novikova L.B.

Bashkir State Medical University

ORCID: 0000-0001-8469-1635

Fayzullina N.M.

Republican Children’s Clinical Hospital

ORCID: 0000-0001-6152-3460

Akopyan A.P.

Bashkir State Medical University

SPIN RSCI: 9848-8662
ORCID: 0000-0001-8436-5610

Ziultsle K.M.

Bashkir State Medical University

ORCID: 0000-0002-8552-6233

Ring chromosome 14 syndrome

Authors:

Novikova L.B., Fayzullina N.M., Akopyan A.P., Ziultsle K.M.

More about the authors

Journal: S.S. Korsakov Journal of Neurology and Psychiatry. 2025;125(10‑2): 96‑102

DOI: 10.17116/jnevro202512510296

Read: 539 times

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To cite this article:

Novikova LB, Fayzullina NM, Akopyan AP, Ziultsle KM. Ring chromosome 14 syndrome. S.S. Korsakov Journal of Neurology and Psychiatry. 2025;125(10‑2):96‑102. (In Russ.)
https://doi.org/10.17116/jnevro202512510296

Подписка 2026 Журнал неврологии и психиатрии им. С.С. Корсакова. Спецвыпуски (S.S. Korsakov Journal of Neurology and Psychiatry (special issues))

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Abstract:

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.

Keywords:

refractory epilepsy

chromosomal diseases

deletions

ring chromosome

Authors:

Novikova L.B.

Bashkir State Medical University

ORCID: 0000-0001-8469-1635

Fayzullina N.M.

Republican Children’s Clinical Hospital

ORCID: 0000-0001-6152-3460

Akopyan A.P.

Bashkir State Medical University

SPIN RSCI: 9848-8662
ORCID: 0000-0001-8436-5610

Ziultsle K.M.

Bashkir State Medical University

ORCID: 0000-0002-8552-6233

Received:

23.10.2024

Accepted:

21.02.2025

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References:

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