bekhterevОбозрение психиатрии и медицинской психологии имени В.М.БехтереваV.M. BEKHTEREV REVIEW OF PSYCHIATRY AND MEDICAL PSYCHOLOGY2313-70532713-055XV. M. BEKHTEREV NATIONAL RESEARCH MEDICAL CENTER FOR PSYCHIATRY AND NEUROLOGY OF THE RUSSIAN FEDERATION MINISTRY OF HEALTH10.31363/2313-7053-2021-56-3-32-44bekhterev-583Research ArticleНАУЧНЫЕ ОБЗОРЫSCIENTIFIC REVIEWГетерогенность абсансных эпилепсий в детском возрастеHeterogenity of childhood absence epilepsieshttps://orcid.org/0000-0002-2970-2810ГусяковФ. И.GusyakovF. I.

Гусяков Филипп Игоревич

Казань

Filipp I.Gusyakov

Kazan

philippgus@gmail.comhttps://orcid.org/0000-0002-8804-8118БелоусоваМ. В.BelousovM. V.

Белоусова Марина Владимировна

Казань

Marina V. Belousova

Kazan

belousova.marina@mail.ruhttps://orcid.org/0000-0003-3794-215XМорозоваЕ. А.MorozovaE. A.

Морозова Елена Александровна

Казань

Elene A. Morozova

Kazan

ratner@bk.ruhttps://orcid.org/0000-0002-0211-789XГазизоваД. Г.GazizovaD. G.

Газизова Диляра Гарифовна

Казань

Dilyara G. Gazizova

Kazan

Gazizad72@mail.ruКазанская государственная медицинская академия - филиал ФГБОУ ДПО «Российская медицинская академия непрерывного профессионального образования» Министерства здравоохранения Российской ФедерацииРоссияKazan State Medical Academy - branch of the “Russian medical Academy of continuous professional education” of the Ministry of health of the Russian FederationRussian FederationАвтономная некоммерческая организация дополнительного и профессионального образования «Семейный образовательный центр «Казаныш» («Достижение»)»РоссияAutonomous Non-profit Organization of additional and professional Education «Family Educational Center «Kazanysh» («Achievement»)Russian Federation2021021020215533244Copyright © Гусяков Ф.И., Белоусова М.В., Морозова Е.А., Газизова Д.Г., 20212021Гусяков Ф.И., Белоусова М.В., Морозова Е.А., Газизова Д.Г.Gusyakov F.I., Belousov M.V., Morozova E.A., Gazizova D.G.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.bekhterevreview.com/jour/article/view/583

Резюме. В связи с растущим объемом научных данных о генетических аспектах генерализованных эпилепсий в последние десятилетия стала очевидной неоднозначность определения терапевтической тактики и прогноза у данной когорты пациентов исключительно по фенотипическим особенностям пациента. Известно, что эпилепсии, обладающие схожими фенотипами, показывают различную генетическую природу, различный патогенез развития эпилептогенеза и ответ на терапию. Также отличаются исходы как в отношении контроля приступов, так и в отношении когнитивных функций.

В статье представлен обзор факторов, которые необходимо учитывать при манифестации детских абсансных эпилепсий: пол ребенка, типы приступов, когнитивный профиль, результаты электроэнцефалографии и нейровизуализации. Уделено внимание генам, определяющим развитие этих форм эпилепсии у детей. Приведены данные о роли вольтаж-зависимых ионных каналов (кальция, хлора), лиганд-зависимых каналов ГАМК-рецепторов и рецепторов глутамата, о связи геномного локуса 8q24 и гена транспортера дофамина с развитием генерализованных эпилепсий. В статье содержится информация о терапии абсансных эпилепсий у детей и выборе антиконвульсантов. Также авторы приводят описание клинического случая детской абсансной эпилепсии с акцентом на особенности нейрокогнитивного статуса.

Summary. In connection with the growing volume of scientific data on the genetic problems of generalized epilepsy in recent decades, the ambiguity of the therapeutic tactics and prognosis of this cohort of patients has become obvious based solely on the phenotypic characteristics of the patient. It is known that epilepsies with similar phenotypes show a different genetic nature, different pathogenesis of the development of epileptogenesis and response to therapy. The outcomes also differ, both in terms of seizure control and in terms of cognitive functions.

The article presents an overview of the factors that must be taken into account when manifesting childhood absentee epilepsy: the child’s gender, types of seizures, cognitive profile, results of electroencephalography and neuroimaging. Attention is paid to the genes that determine the development of these forms of epilepsy in children.

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