medalphabetМедицинский алфавитMedical alphabet2078-56312949-2807ООО «Альфмед»10.33667/2078-5631-2025-2-63-67medalphabet-4258Research ArticleНЕВРОЛОГИЯ И ПСИХИАТРИЯNEUROLOGY AND PSYCHIATRYСиндром кольцевой хромосомы 14 или r(14). Клинические случаиRing chromosome 14 syndrome or R(14). Clinical caseshttps://orcid.org/0000-0001-8469-1635НовиковаЛ. Б.NovikovaL. B.

 Новикова Лилия Бареевна, д. м. н., проф., зав. кафедрой неврологии и нейрореабилитации. 

Уфа

 Novikova Liliya B., DM Sci (habil.), professor, head of Dept of Neurology and Neurorehabilitation.

Ufa

https://orcid.org/0000-0001-6152-3460ФайзуллинаН. М.FaizullinaN. M.

 Файзуллина Наиля Мухаметовна, ассистент кафедры неврологии и нейрореабилитации

Уфа

Faizullina Nailya M., assistant at Dept of Neurology and Neurorehabilitation

Ufa

https://orcid.org/0000-0001-8436-5610АкопянА. П.AkopianA. P.

 Акопян Анаит Погосовна, к. м. н., доцент кафедры неврологии нейрореабилитации

Уфа

 Akopian Anahit P., PhD Med, associate professor at Dept of Neurology and Neurorehabilitation. 

Ufa

https://orcid.org/0000-0002-8552-6233ЗюльцлеК. М.ZiultsleK. M.

 Зюльцле Карина Маратовна, к. м. н., доцент кафедры неврологии и нейрореабилитации

Уфа

 Ziultsle Karina M., PhD Med, associate professor at Dept. of Neurology and Neurorehabilitation

Ufa

sharapovakarina.2020@gmail.comФГБОУ ВО «Башкирский государственный медицинский университет» Минздрава РоссииРоссияBashkir State Medical UniversityRussian Federation20252803202502«Неврология и психиатрия» (1)6367Copyright © Новикова Л.Б., Файзуллина Н.М., Акопян А.П., Зюльцле К.М., 20252025Новикова Л.Б., Файзуллина Н.М., Акопян А.П., Зюльцле К.М.Novikova L.B., Faizullina N.M., Akopian A.P., Ziultsle K.M.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.med-alphabet.com/jour/article/view/4258

 В статье представлены случаи эпилепсии у 2 больных с редкой наследственной патологией, связанной с хромосомной мутацией – делеция 14-й хромосомы. Описанные нами клинические наблюдения представляют профессиональный и научный интерес, так как относятся к раритетной неврологической патологии. Повышение осведомленности врачей о данной патологии будет способствовать его своевременной диагностике и лечению.

 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.

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The authors declare that there are no conflicts of interest present.