Russian Journal of GeneticsRussian Journal of GeneticsГенетика0016-67583034-5103The Russian Academy of Sciences66706010.31857/S0016675823100041UDZYMWОБЗОРНЫЕ И ТЕОРЕТИЧЕСКИЕ СТАТЬИGenetic Factors of Reflex EpilepsiesГенетические факторы рефлекторных эпилепсийDudkoN. A.ДудкоН. А.dudko@rogaevlab.ruKunizhevaS. S.КунижеваС. С.dudko@rogaevlab.ruAndreevaT. V.АндрееваТ. В.dudko@rogaevlab.ruAdrianovaI. Yu.АдриановаИ. Ю.dudko@rogaevlab.ruRogaevE. I.РогаевЕ. И.dudko@rogaevlab.ruCenter for Genetics and Life Science, “Sirius” University of Science and TechnologyЦентр генетики и наук о жизни, Научно-технологический университет “Сириус”Vavilov Institute of General Genetics, Russian Academy of SciencesИнститут общей генетики им. Н.И. Вавилова Российской академии наукCenter for Genetics and Genetic Technologies, Lomonosov Moscow State UniversityЦентр генетики и генетических технологий, Московский государственный университет им. М.В. ЛомоносоваDepartment of Psychiatry, UMass Chan Medical SchoolМедицинская школа Чан Массачусетского университета, департамент психиатрии0110202359101120113326022025Copyright ©; 2023, Н.А. Дудко, С.С. Кунижева, Т.В. Андреева, И.Ю. Адрианова, Е.И. РогаевCopyright ©; 2023, Н.А. Дудко, С.С. Кунижева, Т.В. Андреева, И.Ю. Адрианова, Е.И. Рогаев2023Н.А. Дудко, С.С. Кунижева, Т.В. Андреева, И.Ю. Адрианова, Е.И. РогаевН.А. Дудко, С.С. Кунижева, Т.В. Андреева, И.Ю. Адрианова, Е.И. Рогаевhttps://transsyst.ru/0016-6758/article/view/667060

Reflex epilepsy is a relatively rare form of epilepsy, occurring only in five percent of all cases of this disease. The genetic factors of reflex epilepsy are diverse and, in general, poorly studied. This review examines the main results obtained in recent years in the study of molecular genetic factors of reflex epilepsy, including new data on the mechanisms of genetic regulation in reflex epilepsy caused by triggers such as audio and video stimulation, food consumption, reading, contact with water and hypoxia. The results obtained in studies on animal models and patients using next-generation sequencing technology are presented.

Рефлекторные эпилепсии относятся к сравнительно редким формам эпилепсий. Обычно рефлекторные эпилептические приступы являются частью комплексного фенотипа, что усложняет возможность выявления генетических факторов, лежащих в их основе. Многочисленные генетические исследования рефлекторных эпилепсий как на животных моделях, так и у человека позволяют предположить сложную гетерогенную природу этих неврологических расстройств. В данном обзоре рассматриваются основные результаты, полученные в последние годы при исследовании молекулярно-генетических факторов рефлекторной эпилепсии, в том числе освещаются новые данные о механизмах генетической регуляции при рефлекторных эпилепсиях, вызываемых такими триггерами как аудио- и видео-стимуляция, потребление пищи, чтение, контакт с водой и гипоксия. Представлены результаты, полученные в исследованиях на животных моделях и пациентах с использованием технологии секвенирования следующего поколения.

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