Генетические факторы рефлекторных эпилепсий

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Аннотация

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.

Об авторах

Н. А. Дудко

Центр генетики и наук о жизни, Научно-технологический университет “Сириус”; Институт общей генетики им. Н.И. Вавилова Российской академии наук

Автор, ответственный за переписку.
Email: dudko@rogaevlab.ru
Россия, 354340, Краснодарский край, пгт. Сириус; Россия, 119991, Москва

С. С. Кунижева

Центр генетики и наук о жизни, Научно-технологический университет “Сириус”; Институт общей генетики им. Н.И. Вавилова Российской академии наук; Центр генетики и генетических технологий, Московский государственный университет
им. М.В. Ломоносова

Email: dudko@rogaevlab.ru
Россия, 354340, Краснодарский край, пгт. Сириус; Россия, 119991, Москва; Россия, 119234, Москва

Т. В. Андреева

Центр генетики и наук о жизни, Научно-технологический университет “Сириус”; Институт общей генетики им. Н.И. Вавилова Российской академии наук; Центр генетики и генетических технологий, Московский государственный университет
им. М.В. Ломоносова

Email: dudko@rogaevlab.ru
Россия, 354340, Краснодарский край, пгт. Сириус; Россия, 119991, Москва; Россия, 119234, Москва

И. Ю. Адрианова

Институт общей генетики им. Н.И. Вавилова Российской академии наук

Email: dudko@rogaevlab.ru
Россия, 119991, Москва

Е. И. Рогаев

Центр генетики и наук о жизни, Научно-технологический университет “Сириус”; Центр генетики и генетических технологий, Московский государственный университет
им. М.В. Ломоносова; Медицинская школа Чан Массачусетского университета, департамент психиатрии

Email: dudko@rogaevlab.ru
Россия, 354340, Краснодарский край, пгт. Сириус; Россия, 119234, Москва; США, 01545, МА, Шрусбери

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